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MedWorm: Dystonia provides a medical RSS filtering service. Over 7000 RSS medical sources are combined and output via different filters. This feed contains the latest news and research in the Dystonia category.

Last Build Date: Mon, 21 Mar 2016 19:56:40 +0100


Repetitive exercise dystonia: A difficult to treat hazard of runner and non-runner athletes

Sat, 19 Mar 2016 00:00:00 +0100

Runner's dystonia has previously been described in small series or case reports as a lower limb, task-specific dystonia. We have occasionally encountered this disorder and recognized the same phenomenon in non-runners regularly engaging in lower limb exercise. We wished to characterize the syndrome further, including outcomes, treatment, and the diagnostic usefulness of electrophysiology. (Source: Parkinsonism and Related Disorders)

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Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High‐Throughput Sequencing

Thu, 17 Mar 2016 00:00:00 +0100

ABSTRACT Dystonia is a genetically heterogenous disease and a prototype disorder where next‐generation sequencing has facilitated the identification of new pathogenic genes. This includes the first two genes linked to recessively inherited isolated dystonia, that is, HPCA (hippocalcin) and COL6A3 (collagen VI alpha 3). These genes are proposed to underlie cases of the so‐called DYT2‐like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis. First, deficiency in HPCA function is thought to alter calcium homeostasis, a mechanism that has previously been forwarded for CACNA1A and ANO3. The novel myoclonus‐dystonia genes KCTD17 and CACNA1B also implicate abnormal calcium signaling in dystonia. Second, the phenotype in COL6A3‐loss‐of‐function zebrafish m...

Palliative Sedation and What Constitutes Active Dying: A Case of Severe Progressive Dystonia and Intractable Pain

Thu, 17 Mar 2016 00:00:00 +0100

We present the case of a 34-year-old woman with Klippel-Feil syndrome who developed progressive generalized dystonia of unclear etiology, resulting in intractable pain despite aggressive medical and surgical interventions. Ultimately, palliative sedation was required to relieve suffering. Herein, we describe ethical considerations including defining sedation, determining prognosis in the setting of an undefined neurodegenerative condition, and use of treatments that concurrently might prolong or alter end-of-life trajectory. We highlight pertinent literature and how it may be applied in challenging and unique clinical situations. Finally, we discuss the need for expert multidisciplinary involvement when implementing palliative sedation and illustrate that procedures and rules need to be in...

Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations

Wed, 16 Mar 2016 19:34:06 +0100

Conclusions: In this small sample, pregnancy, delivery, and breastfeeding were safe in dystonia patients treated with DBS. The presence of DBS should not be a contraindication to pregnancy.Stereotact Funct Neurosurg 2016;94:60-65 (Source: Stereotactic and Functional Neurosurgery)

Motor cortex stimulation for movement disorders.

Wed, 16 Mar 2016 19:08:02 +0100

Authors: Cioni B, Tufo T, Bentivoglio A, Trevisi G, Piano C Abstract Motor cortex stimulation (MCS) was introduced by Tsubokawa in 19911 for the treatment of thalamic pain on the basis of the observation that hyperactivity of thalamic neurons after spino-thalamic tractotomy was inhibited by stimulation of the motor cortex. MCS has been reported to be effective not only on pain, but also to improve movement disorders such as Parkinson's disease, tremor, dystonia, post-stroke movement disorders and hemiparesis. Most of these publications are case reports or small series, and the real impact of MCS on movement disorders remains to be determined. In order to clarify this point, we conducted a PubMed search from1991 to 2016 using established MeSH words. A total of 40 papers were selecte...

Deep brain stimulation for dystonia review of the literature.

Wed, 16 Mar 2016 19:08:02 +0100

This article should give a review of the current literature from a neurosurgical perspective. Since dystonia is a rare disease, only few studies on larger cohorts have been published, and very few randomized controlled studies are avaialable in the international literature. Our experiences gained treating 134 patients with various types of dystonia, between 1999 and 2015, will serve a guide to interpret the current literature. Symptoms of dystonia are due to a variety of medical conditions. A careful and extensive neurological evaluation is mandatory before medical and surgical treatment options are considered, since the clinical benefits of more aggressive treatment e.g. by DBS depend to a large extent on the etiology of the disease. Diagnostic steps should include also Magnetic resonance...

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Pial Synangiosis Ameliorates Movement Disorders in the Absence of Prior Stroke in Moyamoya Disease

Wed, 16 Mar 2016 00:00:00 +0100

Conclusions: Moyamoya disease is an important and surgically treatable cause of movement disorders. (Source: Journal of Child Neurology)

Sun exposure is an environmental factor for the development of blepharospasm

Tue, 15 Mar 2016 00:00:00 +0100

Conclusion The increase in the blepharospasm: cervical dystonia case ratio with decreasing latitude and increasing insolation suggests that sunlight exposure is an environmental risk factor for the development of blepharospasm (rather than cervical dystonia) in individuals genetically susceptible to adult-onset dystonia. (Source: Journal of Neurology, Neurosurgery and Psychiatry)

British Neurotoxin Network recommendations for managing cervical dystonia in patients with a poor response to botulinum toxin.

Mon, 14 Mar 2016 00:00:00 +0100

Authors: Marion MH, Humberstone M, Grunewald R, Wimalaratna S Abstract Botulinum toxin (BoNT) injections are an effective treatment for cervical dystonia. Approximately 20% of patients eventually stop BoNT treatment, mostly because of treatment failure. These recommendations review the different therapeutic interventions for optimising the treatment in secondary poor responder patients. Immunoresistance has become less common over the years, but the diagnosis has to be addressed with a frontalis test or an Extensor Digitorum Brevis test. In case of immunoresistance to BoNT-A, we discuss the place the different therapeutic options (BoNT-A holidays, BoNT-B injections, alternative BoNT-A injections, deep brain stimulation). When poor responders are not immunoresistant, they benefit fr...

Dystonie reactions and hallucinations: a rare adverse-effect?

Sat, 12 Mar 2016 04:45:03 +0100

Authors: Kaiser LH, Schols MP Abstract Dystonie reactions and hallucinations: a rare adverse-effect? One of the intriguing side-effects of neuroleptics is the acute dystonie reaction like oculogyric crises. It is seldom mentioned that the dystonie reaction may be combined with hallucinations. This combination of acute dystonia with hallucinations may be explained by overstimulation of dopamine-receptors in the striatal neurons. Awareness of these hallucinations as a complication of neuroleptics is essential to prevent that neuroleptic dose will be increased; instead it must be lowered. Prevention of the dystonia is critical. These side effects may be suppressed with anti-parkinsonian drugs. Information to the patient in due time may prevent anxiety about the side effects. PMID...

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Sat, 12 Mar 2016 00:00:00 +0100

Conclusion Transient neonatal polyuria and renal failure have not been reported to date in SERAC1 defective patients. Such neonatal kidney findings expand the clinical spectrum of MEGDEL syndrome. (Source: Molecular Genetics and Metabolism Reports)

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Clinical improvement in a treatment-resistant patient with schizophrenia treated with deep brain stimulation

Thu, 10 Mar 2016 00:00:00 +0100

Deep brain stimulation (DBS) is an established therapeutic option for treatment-resistant symptoms in Parkinson’s disease, dystonia and essential tremor (1). The stimulation is believed to have inhibitory or ‘lesion-like’ effects, which are achieved by a combination of local inhibition and disruption of functioning in neuronal circuits by means of either a phenomenon akin to ‘jamming’ (2) or by synaptic depletion (3). (Source: Biological Psychiatry)

FDA Issues Draft Guidance For IDEs For Neurological Devices

Tue, 08 Mar 2016 08:22:08 +0100

The U.S. Food and Drug Administration (FDA) released a draft guidance for sponsors who wish to submit an investigational device exemption (IDE) to conduct trials for devices intended to slow, stop, or reverse the effects of neurological diseases, including Alzheimer's disease, Parkinson's disease, or primary dystonia. (Source: Medical Design Online News)

Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

Tue, 08 Mar 2016 00:00:00 +0100

Abstract Deep brain stimulation (DBS) is highly effective for both hypo- and hyperkinetic movement disorders of basal ganglia origin. The clinical use of DBS is, in part, empiric, based on the experience with prior surgical ablative therapies for these disorders, and, in part, driven by scientific discoveries made decades ago. In this review, we consider anatomical and functional concepts of the basal ganglia relevant to our understanding of DBS mechanisms, as well as our current understanding of the pathophysiology of two of the most commonly DBS-treated conditions, Parkinson’s disease and dystonia. Finally, we discuss the proposed mechanism(s) of action of DBS in restoring function in patients with movement disorders. The signs and symptoms of the various disorders appear to r...

Novel mutation in SUCLA2 identified on sequencing analysis

Tue, 08 Mar 2016 00:00:00 +0100

Abstract Succinate‐CoA ligase, ADP‐forming, beta subunit (SUCLA2)‐related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP‐using isoform of the beta subunit in succinyl‐CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a mitochondrial disorder that manifests as deafness, lesions in the basal ganglia, and encephalomyopathy accompanied by dystonia. Such mutations are generally associated with mildly increased plasma methylmalonic acid, increased plasma lactate, elevated plasma carnitine esters, and the presence of methylmalonic acid in urine. In this case report, we describe a new mutation in a patient with a succinyl‐CoA synthase deficiency c...

Targeted brain activation using an MR-compatible wrist torque measurement device and isometric motor tasks during functional magnetic resonance imaging

Tue, 08 Mar 2016 00:00:00 +0100

Dedicated pairs of isometric wrist flexion tasks, with and without visual feedback of the exerted torque, were designed to target activation of the CBL and BG in healthy subjects during functional magnetic resonance imaging (fMRI). Selective activation of the cerebellum (CBL) and basal ganglia (BG), often implicated in movement disorders such as tremor and dystonia, may help identify pathological changes and expedite diagnosis. A prototyped MR-compatible wrist torque measurement device, free of magnetic and conductive materials, allowed safe execution of tasks during fMRI without causing artifacts. (Source: Magnetic Resonance Imaging)

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Holmes tremor: Clinical description, lesion localization, and treatment in a series of 29 cases

Mon, 07 Mar 2016 00:00:00 +0100

Conclusions: The most common causes of HT in our series were vascular lesions. The most common lesion topography was mesencephalic, thalamic, or both. Treatment with levodopa and thalamic stereotactic lesional surgery seems to be effective. (Source: Neurology)

Restless legs syndrome in Wilson's disease: frequency, characteristics, and mimics

Fri, 04 Mar 2016 00:00:00 +0100

ConclusionRLS was frequent in this cohort of WD and might be causally related to WD. RLS should be included in the diagnostic work‐up of WD. In complex motor disorders, differential diagnosis of RLS might require evening/nighttime examination and video‐polysomnography. In WD patients with a clinically significant RLS, treatment with dopaminergic substances may be considered. (Source: Acta Neurologica Scandinavica)

New THAP1 mutation and role of putative modifier in TOR1A

Fri, 04 Mar 2016 00:00:00 +0100

ConclusionsAlthough clinically similar to most cohorts with dystonia worldwide, the classical mutation (c.907_909delGAG) in TOR1A (causing DYT1) is absent in our patients. However, we found a potentially deleterious THAP1 mutation not previously reported. In addition, we found no association of rs1801968 with dystonia. (Source: Acta Neurologica Scandinavica)

What’s Not in the Name? Dopa-Responsive Dystonia: May Respond to More Than L-dopa

Thu, 03 Mar 2016 00:00:00 +0100

Classic L-dopa-responsive dystonia (DRD) is characterized by the triad of dystonia, diurnal fluctuation of symptoms, and dramatic response of symptoms to low dose L-dopa therapy. DRD succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of DRD as a diagnostic-end without molecular and/or biochemical definition may contribute to mis-diagnosis and incomplete treatment in dopa-responsive conditions that impair synthesis of monoamine neurotransmitters besides dopamine. (Source: Pediatric Neurology)

Engineered Surface Tubing

Wed, 02 Mar 2016 10:35:11 +0100

Zeus offers Engineered Surface Tubing designed specifically for the neurostimulation treatment of Dystonia; a neurological movement disorder primarily related to Parkinson’s disease. This surface tubing features highly lubricated surfaces, making treatment delivery easier for surgeons and safer for patients. (Source: Medical Design Online Products)

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Bilateral Lower Sternocleidomastoid Botulinum Toxin Injections to Address Refractory Anterocollis

Tue, 01 Mar 2016 06:00:00 +0100

We described 2 cases of refractory anterocollis. They did not benefit from conventional bilateral upper portion of sternocleidomastoid muscle injections with OnabotulinumtoxinA, but notably improved their symptoms and clinical global impression after switching to injections into bilateral lower portion of sternocleidomastoid muscles, without significant side effects. (Source: The Neurologist)

Determining Whether a Definitive Causal Relationship Exists Between Aripiprazole and Tardive Dyskinesia and/or Dystonia in Patients With Major Depressive Disorder, Part 3: Clinical Trial Data

Tue, 01 Mar 2016 06:00:00 +0100

This series of columns has 3 main goals: (1) to explain class warnings as used by the United States Food and Drug Administration, (2) to increase awareness of movement disorders that may occur in patients treated with antipsychotic medications, and (3) to understand why clinicians should refrain from immediately assuming a diagnosis of tardive dyskinesia/dystonia (TD) in patients who develop abnormal movements during treatment with antipsychotics. The first column in the series presented a patient who developed abnormal movements while being treated with aripiprazole as an augmentation strategy for major depressive disorder (MDD) and reviewed data concerning the historical background, incidence, prevalence, and risk factors for tardive and spontaneous dyskinesias, the clinical presentation...

International Perspectives: Clinical Kernicterus in Preterm Infants in Japan

Tue, 01 Mar 2016 00:00:00 +0100

In recent years, clinical kernicterus has been diagnosed in preterm infants on the basis of motor (kinetic) disorders such as choreoathetosis and dystonia, impairment in auditory neuropathy-type hearing, and abnormal pallidal signals on head magnetic resonance imaging. In Japan, it is currently estimated that at least 8 to 9 cases of kernicterus (approximately 2 per 1,000 cases) occur annually in preterm infants of less than 30 weeks’ gestation. Therefore, there is an urgent need to revise our jaundice management approach in preterm infants. Two major characteristics of Japanese preterm infants who develop clinical kernicterus are: (1) a peak total serum/plasma bilirubin (TB) level at 2 weeks of age or later; and (2) no markedly high total bilirubinemia. Some patients without high TB...

Clinimetric testing of the comprehensive cervical dystonia rating scale

Tue, 01 Mar 2016 00:00:00 +0100

ConclusionsThe modules of the Comprehensive Cervical Dystonia Rating Scale are internally consistent with a logical factor structure. © 2016 International Parkinson and Movement Disorder Society (Source: Movement Disorders)

Deep brain stimulation for intractable tardive dystonia: Literature overview.

Tue, 01 Mar 2016 00:00:00 +0100

CONCLUSIONS: The performed literature analysis indicates that bilateral GPi DBS is an effective treatment for disabling TD. The response of TD to bilateral GPi DBS may be very rapid and occurs within days/weeks after the procedure. The efficacy of bilateral GPi DBS in TD patients is comparable to results achieved in patients with primary generalized dystonia. PMID: 26969568 [PubMed - as supplied by publisher] (Source: Neurologia i Neurochirurgia Polska)

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CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Mon, 29 Feb 2016 00:00:00 +0100

The CSTB gene encodes for cystatin B, an inhibitor of lysosomal cysteine protease (cathepsins B, H, L, and S).1 CSTB mutations have been associated with type 1 progressive myoclonic epilepsy, also known as Unverricht-Lundborg (ULD) disease, or Baltic myoclonus.2,3 A total of 90% of all disease alleles consists of an expansion of at least 30 times of an unstable 12-nucleotide stretch (dodecamer 5'-CCCCGCCCCGCG-3') in the CSTB promoter region. Homozygosity for this expansion is considered the founder mutation in the Finnish population. Few other mutations have been described, among these the p.Arg68*, but until now only as compound heterozygous with the dodecamer expansion.4–6 Expression of the p.Arg68* mutation in vitro indicates that the truncated protein is rapidly degraded, confirm...

Researchers hope brain's plasticity can be used to treat disorders

Thu, 25 Feb 2016 18:30:17 +0100

Exactly what triggers dystonia — an involuntary muscle contraction of the hand, fingers, neck or mouth, which is sometimes very painful — is unclear. But some researchers think the underlying problem that causes it may also be the key to treating it, and other brain-linked disorders like Parkinson's. (Source: CBC | Health)

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

Thu, 25 Feb 2016 17:08:22 +0100

Conclusions: This Bulgarian NP-C cohort showed wide variability in terms of NPC1 mutations and predominant forms of neurological involvement. Diagnosing NP-C is challenging, and it was often delayed in this cohort due to the heterogeneity of patients' clinical signs and symptoms.Eur Neurol 2016;75:113-123 (Source: European Neurology)

A mixed treatment comparison to compare the efficacy and safety of botulinum toxin treatments for cervical dystonia

Thu, 25 Feb 2016 00:00:00 +0100

Abstract A systematic pair-wise comparison of all available botulinum toxin serotype A and B treatments for cervical dystonia (CD) was conducted, as direct head-to-head clinical trial comparisons are lacking. Five botulinum toxin products: Dysport® (abobotulinumtoxinA), Botox® (onabotulinumtoxinA), Xeomin® (incobotulinumtoxinA), Prosigne® (Chinese botulinum toxin serotype A) and Myobloc® (rimabotulinumtoxinB) have demonstrated efficacy for managing CD. A pair-wise efficacy and safety comparison was performed for all toxins based on literature-reported clinical outcomes. Multi-armed randomized controlled trials (RCTs) were identified for inclusion using a systematic literature review, and assessed for comparability based on patient population and efficacy outcome measures. The...

Task-Specific Dystonia in Professional Musicians.

Wed, 24 Feb 2016 22:11:02 +0100

CONCLUSION: The Bradford Hill causality criteria indicate that intensive playing is related to the development of musician's dystonia. In particular, the association of the type of instrument with the site of dystonia supports this thesis. The indings imply that task-specific dystonia in professional musicians should be included in the list of occupational diseases in Germany. PMID: 26900153 [PubMed - in process] (Source: Deutsches Arzteblatt International)

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Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Wed, 24 Feb 2016 00:00:00 +0100

Conclusions Our findings add altered Golgi morphology, O-linked glycosylation and sialylation defects to the phenotypical spectrum of PLAN; these pathways are essential for correct processing and distribution of proteins. Lewy body and Tau pathology, two neuropathological features of PLAN, could emerge from these defects. Therefore, Golgi morphology, O-linked glycosylation and sialylation may play a role in the pathogenesis of PLAN and perhaps other neurodegenerative disorders. (Source: Journal of Medical Genetics)

Rest tremor in idiopathic adult‐onset dystonia

Wed, 24 Feb 2016 00:00:00 +0100

ConclusionsBoth action and rest tremor are part of the tremor spectrum of adult‐onset dystonia and are more frequently encountered in segmental/multifocal dystonia. The higher age at dystonia onset and the greater frequency of arm dystonia in patients with rest tremor may have pathophysiological implications and may account, at least in part, for the previous lack of identification of rest tremor as one possible type of tremor present in dystonia. (Source: European Journal of Neurology)

Neck Pain and Cervical Dystonia: Treatment Outcomes from CD PROBE (Cervical Dystonia Patient Registry for Observation of OnabotulinumtoxinA Efficacy)

Tue, 23 Feb 2016 00:00:00 +0100

ConclusionResults from this real‐world clinical registry indicate that a majority of CD subjects with moderate/severe neck pain experience significant relief following onabotulinumtoxinA treatment. (Source: Pain Practice)

The globus pallidus pars interna in goal‐oriented and routine behaviors: Resolving a long‐standing paradox

Mon, 22 Feb 2016 00:00:00 +0100

ConclusionThe basal ganglia play a critical role in the deliberative process that underlies learning but are not necessary for the expression of routine movements. Our approach predicts that after pallidotomy or during stimulation, patients should have difficulty with complex decision‐making processes or learning new goal‐oriented behaviors. © 2016 Movement Disorder Society (Source: Movement Disorders)

Abnormal interhemispheric inhibition in musician’s dystonia – trait or state?

Sat, 20 Feb 2016 00:00:00 +0100

A clustering of relatives with dystonia has been reported in families with musician`s dystonia suggesting a genetic contribution to this disease. The aim of the present study was to determine whether interhemispheric inhibition (IHI) measured with transcranial magnetic stimulation is impaired in healthy family members rendering it a suitable endophenotypic marker for musician`s dystonia. (Source: Parkinsonism and Related Disorders)

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Current Treatments of Bruxism

Sat, 20 Feb 2016 00:00:00 +0100

Opinion statement Despite numerous case reports, the evidence for treatment of bruxism is still low. Different treatment modalities (behavioral techniques, intraoral devices, medications, and contingent electrical stimulation) have been applied. A clinical evaluation is needed to differentiate between awake bruxism and sleep bruxism and rule out any medical disorder or medication that could be behind its appearance (secondary bruxism). A polysomnography is required only in a few cases of sleep bruxism, mostly when sleep comorbidities are present. Counselling with regard to sleep hygiene, sleep habit modification, and relaxation techniques has been suggested as the first step in the therapeutic intervention, and is generally considered not harmful, despite low evidence of any effi...

Abnormal interhemispheric inhibition in musician's dystonia – Trait or state?

Sat, 20 Feb 2016 00:00:00 +0100

A clustering of relatives with dystonia has been reported in families with musician's dystonia suggesting a genetic contribution to this disease. The aim of the present study was to determine whether interhemispheric inhibition (IHI) measured with transcranial magnetic stimulation is impaired in healthy family members rendering it a suitable endophenotypic marker for musician's dystonia. (Source: Parkinsonism and Related Disorders)

Assessment of Cognitive Functioning after Pallidotomy in Patients with Primary Dystonia

Thu, 18 Feb 2016 21:34:10 +0100

Conclusions: Stereotactic pallidotomy used in the treatment of primary dystonia is a safe treatment for the cognitive functioning of patients.Stereotact Funct Neurosurg 2016;94:33-40 (Source: Stereotactic and Functional Neurosurgery)

Rater reliability and scoring duration of the Quality Function Measure in ambulant children with hyperkinetic movement disorders

Wed, 17 Feb 2016 00:00:00 +0100

AimTo examine intra‐ and interrater reliability/agreement, and time taken to score, when the Quality Function Measure (QFM) is applied to children with hyperkinetic movement disorders (HMD; e.g. dystonia, chorea, athetosis, tremor, and myoclonus). MethodFifteen ambulant children with HMD participated (eight males, seven females; mean age 13y 7mo, SD 3y 7mo). Three trained raters (two physiotherapists, one occupational therapist) independently scored the QFM using videos of each child performing Gross Motor Function Measure (GMFM) Stand and Walk/Run/Jump dimensions. Reliability was evaluated using intraclass correlation coefficient (ICC) model 2.1, Standard Error of Measurement (SEM), and Bland–Altman methods. ResultsRater reliability was excellent for all five QFM attributes: intrarate...

Long-term efficacy and tolerability of bilateral pallidal stimulation to treat tardive dyskinesia

Mon, 15 Feb 2016 00:00:00 +0100

Conclusions: Pallidal DBS procedure should be considered as a therapeutic option in disabling TD refractory to medical treatment. Classification of evidence: This study provides Class II evidence that in patients with severe pharmacoresistant TD with implanted pallidal leads, the stimulation "on" condition significantly improved ESRS scores compared to the stimulation "off" condition. (Source: Neurology)

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Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.

Mon, 15 Feb 2016 00:00:00 +0100

Authors: Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A Abstract The molecular dysfunction in X-linked dystonia-parkinsonism is not completely understood. Thus far, only noncoding alterations have been found in genetic analyses, located in or nearby the TATA-box binding protein-associated factor 1 (TAF1) gene. Given that this gene is ubiquitously expressed and is a critical component of the cellular transcription machinery, we sought to study differential gene expression in peripheral models by performing microarray-based expression profiling in blood and fibroblasts, and comparing gene expression in affected individuals vs. ethnically matched contr...

A Rare Cervical Dystonia Mimic in Adults: Congenital Muscular Torticollis (Fibromatosis colli), a Follow-up

Sun, 14 Feb 2016 20:25:49 +0100

Mehmet C. Uluer, Branko Bojovic (Source: Frontiers in Neurology)

P2C-Type ATPases and Their Regulation

Sat, 13 Feb 2016 07:21:31 +0100

Abstract P2C-type ATPases are a subfamily of P-type ATPases comprising Na+/K+-ATPase and H+/K+-ATPase. Na+/K+-ATPase is ubiquitously expressed and has been implicated in several neurological diseases, whereas H+/K+-ATPase is found principally in the colon, stomach, and kidney. Both ATPases have two subunits, α and β, but Na+/K+-ATPase also has a regulatory subunit called FXYD, which has an important role in cancer. The most important functions of these ATPases are homeostasis, potassium regulation, and maintaining a gradient in different cell types, like epithelial cells. Na+/K+-ATPase has become a center of attention ever since it was proposed that it might play a crucial role in neurological disorders such as bipolar disorder, mania, depression, familial hemiplegic migraine, ...

Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers.

Sat, 13 Feb 2016 00:00:00 +0100

Authors: Wang DD, de Hemptinne C, Miocinovic S, Qasim SE, Miller AM, Ostrem JL, Galifianakis NB, Luciano MS, Starr PA Abstract Local field potentials (LFP) recorded from the subthalamic nucleus in patients with Parkinson's disease (PD) demonstrate prominent oscillations in the beta (13-30Hz) frequency range, and reduction of beta band spectral power by levodopa and deep brain stimulation (DBS) is correlated with motor symptom improvement. Several features of beta activity have been theorized to be specific biomarkers of the parkinsonian state, though these have rarely been studied in non-parkinsonian conditions. To compare resting state LFP features in PD and isolated dystonia and evaluate disease-specific biomarkers, we recorded subthalamic LFPs from 28 akinetic-rigid PD and 12 is...

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].

Fri, 12 Feb 2016 14:48:02 +0100

CONCLUSIONS: The reported cases belong to the description already done by Aicardi-Goutieres, it should be noticed this syndrome in a patient with a subacute encephalopathy of debut in the first year of life, dystonia/spasticity in variable degree and important affectation/regression of psychomotor development, particularly in those with increase of pterines (neopterine) in the cerebrospinal fluid and calcifications in the basal ganglia. PMID: 26860721 [PubMed - in process] (Source: Revista de Neurologia)

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Cortical Silent Period Reveals Differences Between Adductor Spasmodic Dysphonia and Muscle Tension Dysphonia

Fri, 12 Feb 2016 00:00:00 +0100

Conclusion. There are differences in cortical excitability between AdSD, MTD, and healthy controls. These differences in the cortical measure of both the FDI and masseter muscles in AdSD suggest widespread dysfunction of the GABAB mechanism may be a pathophysiologic feature of AdSD, similar to other forms of focal dystonia. Further exploration of the use of TMS to assist in the differential diagnosis of AdSD and MTD is warranted. (Source: Neurorehabilitation and Neural Repair)

The role of mutations in COL6A3 in isolated dystonia

Fri, 12 Feb 2016 00:00:00 +0100

Abstract Specific mutations in COL6A3 have recently been reported as the cause of isolated recessive dystonia, which is a rare movement disorder. In all patients, at least one mutation was located in Exons 41 and 42. In an attempt to replicate these findings, we assessed by direct sequencing the frequency of rare variants in Exons 41 and 42 of COL6A3 in 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features. We identified nine heterozygous carriers of rare variants including five different missense mutations and an extremely rare synonymous variant. In these nine patients, we sequenced the remaining 41 coding exons of COL6A3 to test for a second mutation in the compound heterozygous state. In only one of them, a second rare variant...

Programming Deep Brain Stimulation for Tremor and Dystonia: the Toronto Western Hospital Algorithms

Fri, 12 Feb 2016 00:00:00 +0100

• Deep brain stimulation is an established and effective treatment for both tremor and dystonia.• Post-operative programming is a time-consuming process mainly relying on clinician's personal experience as no evidence-based guidelines available.• We reviewed the literature on initial and follow-up programming procedures.• We developed standardized programming protocols tailored to an individualized approach to managing symptoms associated with deep brain stimulation and disease progression in patients with tremor and dystonia. (Source: BRAIN STIMULATION: Basic, Translational, and Clinical Research in Neuromodulation)

Russell Meyers (1905-1999): pioneer of functional and ultrasonic neurosurgery.

Fri, 12 Feb 2016 00:00:00 +0100

Authors: Abel TJ, Walch T, Howard MA Abstract Advances in functional neurosurgery, including neuromodulation and more recently ultrasonic ablation of basal ganglia structures, have improved the quality of life for patients with debilitating movement disorders. What is little known, however, is that both of these neurosurgical advances, which remain on the cutting edge, have their origin in the pioneering work of Russell Meyers, whose contributions are documented in this paper. Meyers' published work and professional correspondence are reviewed, in addition to documents held by the Department of Neurosurgery at the University of Iowa. Meyers was born in Brooklyn, New York, and received his neurosurgical training at hospitals in New York City under Jefferson Browder. In 1939, a chanc...

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2. Antecollis associated with Parkinson’s disease improved following apomorphine therapy

Thu, 11 Feb 2016 06:20:02 +0100

We report improvement in antecollis in a PD patient following subcutaneous apomorphine therapy.We report a 70year old lady with idiopathic PD diagnosed 12years ago. She presented with unilateral levodopa responsive hand tremor with akinesia and rigidity. (Source: Clinical Neurophysiology)

Globus pallidus neuronal firing rates relate to dystonia aetiology and outcome from Deep Brain Stimulation (DBS) in children

Thu, 11 Feb 2016 06:19:59 +0100

To compare neuronal firing rates from the Globus Pallidus interna (GPi) and externa (GPe) in children undergoing DBS for different types of dystonia and to relate findings to outcome. (Source: Clinical Neurophysiology)

ID 13 – Motor cortex connectivity in cervical dystonia: An fMRI study

Thu, 11 Feb 2016 06:19:57 +0100

To better understand motor cortex position in dystonia pathophysiology by its connectivity in normal population and cervical dystonia patients. (Source: Clinical Neurophysiology)

Update on the Use of Botulinum Toxin Therapy for Focal and Task-Specific Dystonias

Thu, 11 Feb 2016 00:00:00 +0100

Semin Neurol 2016; 36: 041-046DOI: 10.1055/s-0035-1571211Focal dystonia is defined by anatomical distribution and represents a distinct entity from generalized dystonia. Task-specific dystonia occurs in the context of specific patterns of movement. Botulinum neurotoxin (BoNT) injections are the treatment of choice in most cases. Several formulations are available; the approved indications, dosing, and some administration details, differ between them. The major forms of focal and task-specific dystonia are reviewed, along with the evidence for BoNT therapy, the expected benefit and side effects, and practical points guiding the injections.[...]Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals:Table of contents  |  Abstract  |  Full tex...

Botulinum Toxin Treatment of Cervical Dystonia

Thu, 11 Feb 2016 00:00:00 +0100

Semin Neurol 2016; 36: 047-053DOI: 10.1055/s-0035-1571210The use of botulinum toxin for the treatment of cervical dystonia (CD) was first reported in 1985. Since then, four commercially available formulations have been approved by the U.S. Food and Drug Administration for use in CD, including three botulinum toxin A formulations and one botulinum toxin B formulation. Recent clinical trials have generally demonstrated good efficacy and tolerability. Commonly reported side effects include dysphagia, muscle weakness, and dry mouth. Secondary nonresponse may develop, but the relationship of detected antibodies to clinical responsiveness remains unclear. Further research is needed into the treatment of complex subtypes of CD and the potential use of alternate botulinum toxin serotypes or subtyp...

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Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm

Thu, 11 Feb 2016 00:00:00 +0100

Semin Neurol 2016; 36: 084-091DOI: 10.1055/s-0036-1571952Blepharospasm is a focal dystonia characterized by involuntary, repetitive eye closure. Orofacial and oromandibular dystonia describe involuntary dystonic movements of orofacial and oromandibular musculature. Hemifacial spasm is characterized by repetitive synchronous contraction of facial nerve innervated muscles on one side of the face. In this article, the clinical presentation, epidemiology, and approaches to treatment are reviewed. Technical aspects of using botulinum toxin for treatment and reported outcomes are discussed.[...]Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals:Table of contents  |  Abstract  |  Full text (Source: Seminars in Neurology)

Ictal motor sequences: Lateralization and localization values

Thu, 11 Feb 2016 00:00:00 +0100

Summary ObjectiveTo determine the lateralization and localization values of ictal motor sequences in the setting of focal epilepsy ending with a secondarily generalized motor seizure. MethodsRetrospectively, the ictal motor sequences were analyzed in patients with focal epilepsy ending with a secondarily generalized motor seizure by three readers blinded to all clinical and electrographic data. One representative seizure per patient was selected. Prevalence, positive predictive value (PPV), and Fleiss Kappa for the following motor signs were calculated: version, unilateral limb tonic posturing, unilateral limb clonic seizure, figure‐of‐4, M2e, hand dystonia, clonic asymmetric ending, and Todd's paralysis. Sequences of signs with a PPV ≥ 80% were then analyzed to determine their lat...

Botulinum Toxin in the Treatment of Pediatric Upper Limb Spasticity

Wed, 10 Feb 2016 00:00:00 +0100

Seminars in Plastic Surgery 2016; 30: 024-028DOI: 10.1055/s-0036-1571302Botulinum neurotoxin (BoNT) is one of the mainstays in the treatment of pediatric spasticity and dystonia. When considering initiation of BoNT treatment for spasticity, treatment goals and responses to prior conservative measures such as passive range of motion exercises, splinting, and other medication trials should be reviewed. As a general rule, children should be engaged in therapy services around the time of the injections and have a robust home program in place. When managing spasticity in children with BoNT injections, the practitioner should be well versed in functional anatomy with specialized training in injection techniques. Localization techniques in addition to anatomical landmarks are recommended for impr...

Therapeutic effects of non-invasive brain stimulation for dystonia

Mon, 08 Feb 2016 00:00:00 +0100

Publication date: Available online 6 February 2016 Source:Basal Ganglia Author(s): Hideyuki Matsumoto, Yoshikazu Ugawa Dystonia is a refractory neurological disorder. Although medications, botulinum toxin injections and surgery (e.g. deep brain stimulation) are the main treatments, these treatments are not always satisfactory for patients with dystonia. Non-invasive brain stimulations (NBS) such as repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) are potential novel therapeutic tools and several studies have used them to treat patients with dystonia. To date, there are several positive placebo-controlled studies on the therapeutic effects of rTMS (focal hand dystonia, cervical dystonia and blepharospasm) and tDCS (focal hand dystoni...

Teaching Video NeuroImages: Faciobrachial dystonic seizures: Pathognomonic phenomenology

Mon, 08 Feb 2016 00:00:00 +0100

A 58-year-old man had a 6-month history of daily brief (5–10 seconds) jaw-pulling and arm-flexion episodes (video 1 on the Neurology® Web site at At-home videos were interpreted as "stress-induced" (video 2). These stereotypical episodes with altered awareness lacked electrographic correlate or any abnormalities on brain MRI, as previously reported.1 The clinical diagnosis of faciobrachial dystonic seizures was supported by elevated voltage-gated potassium channel antibodies (4.11 nmol/L) and positive LGi1 (leucine-rich glioma inactivated-1) protein. Methylprednisolone and plasmapheresis abolished the episodes. Recognition of faciobrachial dystonic seizures is important to reorient treatment from antiepileptics (ineffective) to immunotherapy, preventing progressio...

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Intrathecal baclofen for dystonia treatment during pregnancy: A case report

Fri, 05 Feb 2016 00:00:00 +0100

Publication date: Available online 3 February 2016 Source:Neurología (English Edition) Author(s): C. Méndez-Lucena, J. Chacón Peña, J.M. García-Moreno (Source: Neurologia)

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

Fri, 05 Feb 2016 00:00:00 +0100

Conclusion: This case provides some insight into the reciprocal interconnections between the two metabolic disorders. Similar pathogenic mechanisms responsible for the neuronal injury might have impacted each other, and a strict relationship between a specific aspect of GA1-impaired metabolism and glucose homeostasis might explain how the tailored management of GA1 was not only effective in controlling the disease, but it also resulted in an improvement in the control of the glycemic profile. What in known: • Glutaric aciduria type 1 (GA1) usually presents in childhood with severe and possibly irreversible neuronal damage, triggered by a catabolic stress ...

Anesthetic management of a patient with severe neck dystonia during MRI

Thu, 04 Feb 2016 00:00:00 +0100

Vinay Byrappa, Shruti Redhu, Bhadrinarayan VaradarajanJournal of Anaesthesiology Clinical Pharmacology 2016 32(1):115-116 (Source: Journal of Anaesthesiology Clinical Pharmacology)

Neural correlates of dystonic tremor: a multimodal study of voice tremor in spasmodic dysphonia

Wed, 03 Feb 2016 00:00:00 +0100

Abstract Tremor, affecting a dystonic body part, is a frequent feature of adult-onset dystonia. However, our understanding of dystonic tremor pathophysiology remains ambiguous as its interplay with the main co-occurring disorder, dystonia, is largely unknown. We used a combination of functional MRI, voxel-based morphometry and diffusion-weighted imaging to investigate similar and distinct patterns of brain functional and structural alterations in patients with dystonic tremor of voice (DTv) and isolated spasmodic dysphonia (SD). We found that, compared to controls, SD patients with and without DTv showed similarly increased activation in the sensorimotor cortex, inferior frontal (IFG) and superior temporal gyri, putamen and ventral thalamus, as well as deficient activation in the ...

Paroxysmal dyskinesia on waking: two case reports

Tue, 02 Feb 2016 00:00:00 +0100

Until recently, paroxysmal hypnogenic dyskinesia was thought to be a rare movement disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during non-rapid eye movement sleep, with consciousness preserved once the patient is awakened during the episodes. Recent investigations have revealed that most, but not all, paroxysmal hypnogenic dyskinesia cases are actually frontal lobe epilepsy. Here, we present two cases with paroxysmal choreoathetoid movements on waking during non-rapid eye movement sleep. (Source: Sleep Medicine)

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Surgery for Dystonia and Tremor

Tue, 02 Feb 2016 00:00:00 +0100

Abstract Surgical procedures for dystonia and tremor have evolved over the past few decades, and our understanding of risk, benefit, and predictive factors has increased substantially in that time. Deep brain stimulation (DBS) is the most utilized surgical treatment for dystonia and tremor, though lesioning remains an effective option in appropriate patients. Dystonic syndromes that have shown a substantial reduction in severity secondary to DBS are isolated dystonia, including generalized, cervical, and segmental, as well as acquired dystonia such as tardive dystonia. Essential tremor is quite amenable to DBS, though the response of other forms of postural and kinetic tremor is not nearly as robust or consistent based on available evidence. Regarding targeting, DBS lead placemen...

Blepharospasm in a multiplex African-American pedigree

Tue, 02 Feb 2016 00:00:00 +0100

Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles. Genetic studies of BSP have been limited by the paucity of large multiplex pedigrees. Although sequence variants (SVs) in THAP1 have been reported in rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown. Moreover, in the absence of family history and strong in silico or in vitro evidence of deleteriousness, the pathogenicity of novel SVs in THAP1 and other dystonia-associated genes can be indeterminate. (Source: Journal of the Neurological Sciences)

GNAL Mutation in Isolated Laryngeal Dystonia

Mon, 01 Feb 2016 00:00:00 +0100

ConclusionsOur data show that GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. Exploratory evidence of distinct neural abnormalities in the GNAL carrier may suggest the presence of divergent pathophysiological cascades underlying this disorder. © 2016 International Parkinson and Movement Disorder Society (Source: Movement Disorders)

Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes

Sat, 30 Jan 2016 10:04:41 +0100

ConclusionsInternationally, collaboration in training, advanced diagnosis, treatment and research of DS and, locally, in each country the creation of multidisciplinary teams for the management of dystonia patients could provide the basis for improving all aspects of dystonia management across Europe. (Source: European Journal of Neurology)

Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2

Fri, 29 Jan 2016 00:00:00 +0100

This study highlighted the high frequency of non-motor symptoms and extra-cerebellar signs in SCA2. Our findings demonstrate the widespread of nervous system involvement in SCA2 patients and contribute to better understand the natural history of brain degeneration in this genetic condition. (Source: The Cerebellum)

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Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Fri, 29 Jan 2016 00:00:00 +0100

In conclusion, our report on a patient with TXN2 deficiency suggests an important role of reactive oxygen species homeostasis for human neuronal maintenance and energy metabolism. (Source: Brain)

Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.

Fri, 29 Jan 2016 00:00:00 +0100

This study highlighted the high frequency of non-motor symptoms and extra-cerebellar signs in SCA2. Our findings demonstrate the widespread of nervous system involvement in SCA2 patients and contribute to better understand the natural history of brain degeneration in this genetic condition. PMID: 26825292 [PubMed - as supplied by publisher] (Source: Cerebellum)

A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin {beta}1 subunit, Lamb1

Thu, 28 Jan 2016 00:00:00 +0100

A new mutant mouse (lamb1t) exhibits intermittent dystonic hindlimb movements and postures when awake, and hyperextension when asleep. Experiments showed co-contraction of opposing muscle groups, and indicated that symptoms depended on the interaction of brain and spinal cord. SNP mapping and exome sequencing identified the dominant causative mutation in the Lamb1 gene. Laminins are extracellular matrix proteins, widely expressed but also known to be important in synapse structure and plasticity. In accordance, awake recording in the cerebellum detected abnormal output from a circuit of two Lamb1-expressing neurons, Purkinje cells and their deep cerebellar nucleus targets, during abnormal postures. We propose that dystonia-like symptoms result from lapses in descending inhibition, exposing...

The clinical syndrome of dystonia with anarthria/aphonia

Thu, 28 Jan 2016 00:00:00 +0100

In dystonia the formulation of a clinical syndrome is paramount to refine the list of etiologies. We here describe the rare association of dystonia with anarthria/aphonia, by examining a large cohort of patients, to provide a narrow field of underlying conditions and a practical algorithmic approach to reach diagnosis. (Source: Parkinsonism and Related Disorders)

Increased Odds of Melanoma: Parkinson's Disease, Essential Tremor, Dystonia versus Controls

Wed, 27 Jan 2016 17:34:16 +0100

Conclusion: The links between neurological disorders and melanoma, long-known, may not be specific to PD and may extend to other movement disorders.Neuroepidemiology 2016;46:128-136 (Source: Neuroepidemiology)

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Prevalence of Dystonia in Antioquia, Colombia

Wed, 27 Jan 2016 17:34:16 +0100

Conclusion: We found a high prevalence of dystonias in Antioquia. The frequency of the different types of dystonias, as well as the demographic characteristics of our patients, is similar to data from other populations of the world.Neuroepidemiology 2016;46:137-143 (Source: Neuroepidemiology)

Deficits in Limb Praxis in Patients With Obsessive-Compulsive Disorder.

Mon, 25 Jan 2016 19:43:01 +0100

Authors: Rounis E, Banca P, Voon V Abstract There is recent evidence of deficits in praxis in patients with primary dystonia. Obsessive-compulsive disorder (OCD) has been linked to disorders of higher-order motor function, such as dystonia. However, no clear mechanism underlying such a relationship has been found. This pilot study aimed to identify whether patients with OCD might also show deficits in praxis. Patients with OCD were compared with healthy volunteers on a meaningless gesture imitation task. Patients showed significantly lower scores in this task. Further studies are needed to elucidate the nature of patients' deficits in praxis. This might reveal similar mechanisms underlying OCD and some types of movement disorders. PMID: 26792099 [PubMed - as supplied by publish...

Sensory feedback - Dependent neural de-orchestration: The effect of altered sensory feedback on Musician's Dystonia.

Mon, 25 Jan 2016 16:44:02 +0100

CONCLUSIONS: These findings support the hypothesis that the impaired sensorimotor integration of MD patients is specific to the type of overtrained task that the patients were trained for and can be modified with altered sensory feedback. PMID: 26638834 [PubMed - in process] (Source: Restorative Neurology and Neuroscience)

Early deep brain stimulation in patients with myoclonus-dystonia syndrome

Mon, 25 Jan 2016 00:00:00 +0100

We present two patients with severe MD treated with GPi-DBS, one of the patients without a SGCE mutation. Motor improvements (rest/action/total subscores of the Unified Myoclonus Rating Scale and movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale [BFMRS]) and disability (BFMRS disability subscore) were carefully evaluated preoperatively and at 6 and 12months after surgery. Quality of life (addressed using the Portuguese version of the Medical Outcomes Study 36-item Short-Form General Health Survey, version 2.0 [SF-36v2]) was tested preoperatively and 12months after DBS. At 12-month follow-up, myoclonus improved 78.6% in Patient 1 and 80.7% in Patient 2, while dystonia improved 37% and 86.7%, respectively. Improvements in disability ranged from 71.4% to 75%. With regard to qu...

The Lurching Man

Mon, 25 Jan 2016 00:00:00 +0100

from my childhood came to me. (Source: Neurology)

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Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function

Mon, 25 Jan 2016 00:00:00 +0100

In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were screened for GNAL variants by Sanger sequencing. Functional characterization of the Gαolf protein variant was performed using the bioluminescence resonance energy transfer assay. A novel heterozygous nonsynonymous variant (p. F133L) was identified in a patient with cervical and laryngeal dystonia since the third decade of life, with no family history. This variant was not identified in healthy Brazilian controls and was not described in 63,000 exomas of the ExAC database. The F133L mutant exhibited significantly elevated levels of basal BRET and severely diminished amplitude of respon...

Intensive instrument playing can lead to movement disorders

Fri, 22 Jan 2016 05:00:00 +0100

(Deutsches Aerzteblatt International) In total, one in 6,600 persons will develop focal dystonia, whereas an estimated one in 100 musicians will succumb. This is the finding of an original article by Verena Eveline Rozanski and coauthors in the current issue of Deutsches Ärzteblatt International. (Source: EurekAlert! - Medicine and Health)

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.

Fri, 22 Jan 2016 00:00:00 +0100

We describe a spontaneous mouse mutation, Scn8a(9J), that is associated with a chronic movement disorder with early onset tremor and adult onset dystonia. Scn8a(9J) homozygotes have a shortened lifespan, with only 50% of mutants surviving beyond 6months of age. The 3bp in-frame deletion removes 1 of the 3 adjacent isoleucine residues in transmembrane segment DIVS6 of Nav1.6 (p.Ile1750del). The altered helical orientation of the transmembrane segment displaces pore-lining amino acids with important roles in channel activation and inactivation. The predicted impact on channel activity was confirmed by analysis of cerebellar Purkinje neurons from mutant mice, which lack spontaneous and induced repetitive firing. In a heterologous expression system, the activity of the mutant channel was below...

Emerging applications of deep brain stimulation.

Thu, 21 Jan 2016 13:55:02 +0100

Authors: Sharma M, Naik V, Deogaonkar M Abstract Deep brain stimulation (DBS) implantation surgery is an established treatment modality for a variety of medical refractory movement disorders such as Parkinson's disease, Essential tremors and Dystonia. Following the success of DBS in these movement disorders with a high rate of safety and efficacy, there is a resurgence of interest in the utility of this modality in other medical refractory disorders. Consequently, neuromodulation has been explored for a variety of refractory conditions such as neuropsychiatric disorders (major depressive disorders, obsessive- compulsive disorders, addictions), eating disorders including obesity, traumatic brain injury, post-traumatic stress disorders (PTSD), dementias and chronic pain. This review ...

Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)

Wed, 20 Jan 2016 00:00:00 +0100

Abstract Myoclonus–dystonia (M–D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21–q31 represent the major genetic cause of M–D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M–D family (DYT15, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus–dystonia. (Source: Molecular Neurobiology)

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Bilateral pallidotomy for cervical dystonia after failed selective peripheral denervation

Wed, 20 Jan 2016 00:00:00 +0100

We investigated the utility of pallidotomy for cervical dystonia following failed selective peripheral denervation. (Source: World Neurosurgery)

Deep brain stimulation for intractable tardive dystonia: Literature overview

Tue, 19 Jan 2016 00:00:00 +0100

Conclusions The performed literature analysis indicates that bilateral GPi DBS is an effective treatment for disabling TD. The response of TD to bilateral GPi DBS may be very rapid and occurs within days/weeks after the procedure. The efficacy of bilateral GPi DBS in TD patients is comparable to results achieved in patients with primary generalized dystonia. (Source: Polish Journal of Neurology and Neurosurgery)

The Diagnosis and Treatment of Autoimmune Encephalitis.

Mon, 18 Jan 2016 16:10:02 +0100

Authors: Lancaster E Abstract Autoimmune encephalitis causes subacute deficits of memory and cognition, often followed by suppressed level of consciousness or coma. A careful history and examination may show early clues to particular autoimmune causes, such as neuromyotonia, hyperekplexia, psychosis, dystonia, or the presence of particular tumors. Ancillary testing with MRI and EEG may be helpful for excluding other causes, managing seizures, and, rarely, for identifying characteristic findings. Appropriate autoantibody testing can confirm specific diagnoses, although this is often done in parallel with exclusion of infectious and other causes. Autoimmune encephalitis may be divided into several groups of diseases: those with pathogenic antibodies to cell surface proteins, those wi...

Deep brain stimulation: current applications and future prospects.

Sat, 16 Jan 2016 06:18:02 +0100

Authors: Suchorska B, Ruge MI Abstract Deep Brain Stimulation (DBS) has proven to be an effective and minimally invasive surgical treatment for a variety of neurological and psychiatric diseases such as Parkinson's Disease, essential tremor, dystonia, Tourette's Syndrome and depression. In contrast to early surgical lesioning procedures, DBS has a considerably lower side-effect rate and is usually reversible. Common targets include nuclei involved in the basal ganglia circuitry as well as its efferent and afferent pathways such as the subthalamic nucleus (STN), the globus pallidus internus (GPi) or the ventral striatal region. Despite the increasing application of DBS, the exact mechanism of action is still matter of debates. Current trials focus on establishing alternative targets...

Children's Guaifenesin Grape Liquid and Guaifenesin DM Cherry Liquid by Perrigo Company: Recall - Potential Defect with Dosage Cup

Wed, 13 Jan 2016 14:00:00 +0100

An overdose of Guaifenesin DM may cause hyper excitability, rapid eye movements, changes in muscle reflexes, ataxia, dystonia, hallucinations, stupor, and coma. (Source: FDA MedWatch)

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VIDEO: 'Disability doesn't mean anything'

Wed, 13 Jan 2016 00:09:58 +0100

A model with cerebral palsy and dystonia is having deep-brain surgery which she hopes will help with mobility and is on a mission to fight misconceptions about disability. (Source: BBC News | Health | UK Edition)

Abnormal head oscillations in neuro-ophthalmology and neuro-otology

Tue, 12 Jan 2016 21:33:04 +0100

Purpose of review: The study describes the clinical phenomenology and contemporary pathophysiology of concurrent oscillations of the eyes and the head that are present in neurological conditions with diverse causes. Recent findings: One classic example is spasmus nutans in which the eye oscillations are the primary cause, whereas head nodding is thought to be an operant conditional response that suppresses the eye oscillations to facilitate clear vision. The second example is a combination of head tremor and inadequate compensatory eye movements because of vestibular hypofunction leading to the illusion of pendular nystagmus – hence, the condition is called pseudonystagmus. Cerebellar degeneration in ataxia-telangiectasia or synchronized spontaneous discharge from the inferior olive and...

Recall Issued For Children’s Cold Medicine

Tue, 12 Jan 2016 13:38:21 +0100

BOSTON (CBS) — A recall for a children’s cold medicine sold by retailers like CVS and Stop and Shop has been issued. In a release posted on the company’s website, Perrigo Company said they had issued a recall for two batches of their children’s guaifenesin grape liquid and three batches of their children’s guaifenesin DM cherry liquid. Both products are sold in 4 oz. bottles with a dosage cup included in the package. The recall was issued because the markings on some of the dosage cups are inaccurate–which could lead to overdoses. “There have been no reports of adverse events to Perrigo as a result of the incorrect dosage markings,” said Perrigo Chairman and CEO Joseph C. Papa. “Perrigo is taking this action to maintain the highest ...

Abnormal movement‐related suppression of sensory evoked potentials in upper limb dystonia

Tue, 12 Jan 2016 00:00:00 +0100

ConclusionThese results demonstrate abnormal SEP suppression at the onset of movement in patients with primary dystonia, and in addition that vibration of the limb reduces SEP suppression in patients and controls. (Source: European Journal of Neurology)

Fractional anisotropy in children with dystonia or spasticity correlates with the selection for DBS or ITB movement disorder surgery

Tue, 12 Jan 2016 00:00:00 +0100

Conclusions DTI measures may contribute to decision making for CAYP selection for movement disorder surgery. Significant differences in CAYP with secondary dystonia selected for DBS surgery compared to CAYP selected for ITB pump implants, suggesting that more extensive white matter injury may be a feature of the spastic motor phenotype. Altered white matter microstructure could potentially explain the reduced responsiveness to interventions such as DBS in secondary compared to primary dystonia. (Source: Neuroradiology)

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Lack of association between and mutations and sporadic adult-onset primary focal dystonia in a Chinese population

Tue, 12 Jan 2016 00:00:00 +0100

Primary dystonia is a neurological movement disorder characterized by sustained muscle contractions affecting one or more body parts, frequently causing twisting and repetitive movements, or abnormal posturing. Early and adult-onset dystonia are defined by onset before and after 26 years of age, respectively [1]. Epidemiological research shows that the adult-onset primary dystonia is the most common form of primary dystonia, of which the focal subtype is the most common. Adult-onset primary focal dystonia (AOPFD) has variable clinical expression, is often focal at onset, and tends not to spread to adjacent body regions [2]. (Source: Clinical Neurology and Neurosurgery)

[Psychosomatic aspects of dry eye syndrome].

Tue, 12 Jan 2016 00:00:00 +0100

CONCLUSION: Patients with therapy-resistant dry eye syndrome often suffer from anxiety and depression. The psychological stress acts on the nervous system to suppress lacrimal gland function. Further investigation of the correlation between the lacrimal tear film phase and psychological disorders is recommended. Knowledge of personality disorders may allow psychological support that would improve the treatment options for dry eye syndrome. PMID: 26758280 [PubMed - as supplied by publisher] (Source: Der Ophthalmologe)

Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India

Mon, 11 Jan 2016 00:00:00 +0100

Publication date: Available online 4 January 2016 Source:Journal of Clinical Neuroscience Author(s): Madhu Nagappa, Sanjib Sinha, Jitender S. Saini, Pradeep Kallolimath, Nivedita Singh, Arun Kumar, Parayil S. Bindu, Arun B. Taly Non-Wilsonian hepatolenticular degeneration (NWHD) is a heterogeneous neurological disorder occurring secondary to chronic acquired liver disease. Genetically determined familial NWHD is rare, poorly understood, and often mistaken for Wilson’s disease (WD). We analysed clinical and MRI profiles of NWHD patients who did not have obvious cause for acquired liver disease, such as alcohol intake or hepatitis. Six patients from four families (four males, two females, mean age: 17.0±standard deviation 7.9years), presenting with chronic extrapyramidal disorde...

Mechanisms of deep brain stimulation

Fri, 08 Jan 2016 00:00:00 +0100

Deep brain stimulation (DBS) is widely used for the treatment of movement disorders including Parkinson's disease, essential tremor, and dystonia and, to a lesser extent, certain treatment-resistant neuropsychiatric disorders including obsessive-compulsive disorder. Rather than a single unifying mechanism, DBS likely acts via several, nonexclusive mechanisms including local and network-wide electrical and neurochemical effects of stimulation, modulation of oscillatory activity, synaptic plasticity, and, potentially, neuroprotection and neurogenesis. These different mechanisms vary in importance depending on the condition being treated and the target being stimulated. Here we review each of these in turn and illustrate how an understanding of these mechanisms is inspiring next-generation ap...

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