20,267 results match your criteria Dystonias


Fixed-Life or Rechargeable Batteries for Deep Brain Stimulation: Preference and Satisfaction Among Patients With Hyperkinetic Movement Disorders.

Front Neurol 2021 28;12:662383. Epub 2021 May 28.

Department of Neurosurgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Deep brain stimulation (DBS) is an established treatment for hyperkinetic movement disorders. Patients undergoing DBS can choose between the use of a rechargeable or non-rechargeable battery for implanted pulse generators (IPG). In this study, we aimed to evaluate patient preferences and satisfaction with rechargeable and non-rechargeable batteries for IPGs after undergoing DBS. Read More

View Article and Full-Text PDF

Phenotypes of Variants in a Chinese Cohort.

Front Neurol 2021 28;12:662162. Epub 2021 May 28.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

This study aimed to analyze the genotypes and phenotypes of variants in a Chinese cohort. Seven male and four female patients with variants were enrolled, including siblings of brothers. Ten different variants (nine missense and one splicing site) were identified, among which six were novel. Read More

View Article and Full-Text PDF

Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits.

Exp Neurol 2021 Jun 10:113783. Epub 2021 Jun 10.

Department of Applied Physiology and Kinesiology, University of Florida, Gainesville, FL, USA; Department of Neurology, University of Florida, Gainesville, FL, USA; Department of Biomedical Engineering, University of Florida, Gainesville, FL, USA.

DYT1 dystonia is a debilitating movement disorder characterized by repetitive, unintentional movements and postures. The disorder has been linked to mutation of the TOR1A/DYT1 gene encoding torsinA. Convergent evidence from studies in humans and animal models suggest that striatal medium spiny neurons and cholinergic neurons are important in DYT1 dystonia. Read More

View Article and Full-Text PDF

Sustained relief after cessation of subthalamic stimulation for idiopathic dystonia: A 14-year observation.

Brain Stimul 2021 Jun 8. Epub 2021 Jun 8.

Department of Neurosurgery, Center for Functional Neurosurgery, Ruijin Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

View Article and Full-Text PDF

Behavioral Therapy for Tremor or Dystonia Affecting Voice in Speakers with Hyperkinetic Dysarthria: A Systematic Review.

J Voice 2021 Jun 7. Epub 2021 Jun 7.

Department of Physical Medicine & Rehabilitation, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; Think + Speak Lab, Shirley Ryan AbilityLab, Chicago, Illinois.

Introduction: Hyperkinetic dysarthria is characterized by atypical involuntary movements within the speech mechanism that may affect the respiratory, laryngeal, pharyngeal-oral, or velopharyngeal-nasal subsystems and may alter speech production. Although articulatory impairments are commonly considered in hyperkinetic dysarthria, speakers with hyperkinetic dysarthria may also present with changes in voice quality, pitch, and loudness. In approximately 70% of speakers with hyperkinetic dysarthria, these voice alterations are associated with tremor or dystonia. Read More

View Article and Full-Text PDF

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.

Pediatr Neurol 2021 May 14;121:11-19. Epub 2021 May 14.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

Background: A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. Read More

View Article and Full-Text PDF

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

Ann Hum Genet 2021 Jun 10. Epub 2021 Jun 10.

Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.

PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop-gain PRUNE1 variants were identified in its DHH and DHHA2 phosphodiesterase domains. Conversely, a single splice alteration was previously reported. Read More

View Article and Full-Text PDF

Botulinum toxin treatment of dystonic anterocollis: What to inject.

Parkinsonism Relat Disord 2021 May 29;88:34-39. Epub 2021 May 29.

ENT Department, St George's Hospital NHS Foundation Trust, London, United Kingdom.

Background: Anterocollis (AC) is a rare form of cervical dystonia, which responds poorly to botulinum toxin treatment.

Objectives: To recognise the different clinical phenotypes of AC and to detail the selection of muscles from the results of treating a cohort of 15 AC patients with Botulinum Toxin.

Methods: The study was performed using prospectively collected data. Read More

View Article and Full-Text PDF

Rare and Atypical Presentations of Acute Disseminated Encephalomyelitis in Children: A Case Series.

J Trop Pediatr 2021 05;67(2)

Department of Pediatrics, Midnapore Medical College, West Bengal 721101, India.

Acute disseminated encephalomyelitis (ADEM) is a monophasic demyelinating disorder of central nervous system occurring in children with a wide range of clinical manifestations after infection or vaccination. There are few case reports in literature, describing atypical presentations of ADEM with fever of unknown origin, autonomic dysfunction, complex movement disorders such as myoclonus, dystonia and chorea, acute psychosis and myocarditis. Here, we report four cases of ADEM with atypical features like uniocular blindness, myelin oligodendrocyte glycoprotein antibodies negative multiphasic disseminated encephalomyelitis, ADEM mimicking Guillain-Barre syndrome at presentation and isolated spinal ADEM. Read More

View Article and Full-Text PDF

Radiofrequency Ablation for Movement Disorders: Risk Factors for Intracerebral Hemorrhage, a Retrospective Analysis.

Oper Neurosurg (Hagerstown) 2021 Jun 7. Epub 2021 Jun 7.

Department of Neurosurgery, Neurological Institute, TokyoWomen's Medical University, Tokyo, Japan.

Background: One of the greatest concerns associated with radiofrequency ablation is intracerebral hemorrhage (ICH). However, the majority of previous studies have mainly evaluated Parkinson disease patients with ablation of the globus pallidus internus (GPi).

Objective: To investigate the hemorrhagic risk associated with radiofrequency ablation using ventro-oral (Vo) nucleus, ventral intermediate (Vim) nucleus, GPi, and pallidothalamic tract. Read More

View Article and Full-Text PDF

Spectrum of Movement Disorders and Correlation with Functional Status in Children with Cerebral Palsy.

Indian J Pediatr 2021 Jun 7. Epub 2021 Jun 7.

Department of Pediatrics (Neurology Division), Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.

Objectives: To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status.

Methods: In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). Read More

View Article and Full-Text PDF

Reduced Expression of GABA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Front Cell Dev Biol 2021 21;9:650586. Epub 2021 May 21.

Department of Neurology, Hannover Medical School, Hanover, Germany.

DYT-THAP1 dystonia (formerly DYT6) is an adolescent-onset dystonia characterized by involuntary muscle contractions usually involving the upper body. It is caused by mutations in the gene encoding for the transcription factor Thanatos-associated protein (THAP) domain containing apoptosis-associated protein 1 and inherited in an autosomal-dominant manner with reduced penetrance. Alterations in the development of striatal neuronal projections and synaptic function are known from transgenic mice models. Read More

View Article and Full-Text PDF

Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders.

Mol Genet Metab 2021 Jun 2. Epub 2021 Jun 2.

Department of Pharmacology and Chemical Biology, Emory University, Atlanta, GA, USA; Department of Neurology, Emory University, Atlanta, GA, USA. Electronic address:

Dystonia is characterized by involuntary muscle contractions that cause debilitating twisting movements and postures. Although dysfunction of the basal ganglia, a brain region that mediates movement, is implicated in many forms of dystonia, the underlying mechanisms are unclear. The inherited metabolic disorder DOPA-responsive dystonia is considered a prototype for understanding basal ganglia dysfunction in dystonia because it is caused by mutations in genes necessary for the synthesis of the neurotransmitter dopamine, which mediates the activity of the basal ganglia. Read More

View Article and Full-Text PDF

Investigating DYT1 in a Taiwanese dystonia cohort.

J Formos Med Assoc 2021 Jun 4. Epub 2021 Jun 4.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

Background/purpose: A heterozygous three-nucleotide (GAG) in-frame deletion in the TOR1A gene causes the rare disease, dystonia (DYT1), which typically presents as focal limb dystonia during adolescence, then spreads to other limbs. This study investigated the frequency and clinical features of DYT1 in a Taiwanese dystonia cohort.

Methods: We performed targeted next generation sequencing in 318 patients with primary dystonia. Read More

View Article and Full-Text PDF

Non-motor symptoms in spasmodic dysphonia: A case control-study.

Auris Nasus Larynx 2021 Jun 3. Epub 2021 Jun 3.

Institut d'Investigació Biomèdica Agustí Pi Sunyer (IDIBAPS), Barcelona, Spain; CIBERNED: CB06/05/0018-ISCIII, ERN-RND (ID No 739510), Barcelona, Spain; Parkinson's disease and Movement Disorders Unit, Neurology Service, Hospital Clinic Barcelona, Universitat de Barcelona.

Objective: Non-motor symptoms (NMS) have been identified in some focal adult-onset dystonia. In the present study we aimed to evaluate the presence of NMS in patients with spasmodic dysphonia (SD), a focal action-induced dystonia that affects intrinsic laryngeal muscle control.

Methods: Seventeen SD patients and 17 control subjects not significantly different in age and sex were evaluated for the presence of NMS. Read More

View Article and Full-Text PDF

Response to "isolated head tremor: A DAT SPECT and somatosensory temporal discrimination study."

Parkinsonism Relat Disord 2021 May 29. Epub 2021 May 29.

Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland.

In response to Ferrazano and colleagues' observation of normal DAT binding in patients with isolated head tremor but with abnormal STDT, we report normal 123-IBZM SPECT in a cohort of patients with adult-onset idiopathic focal dystonia with cervical dystonia and their unaffected first-degree relatives both with normal and abnormal TDTs. We discuss molecular imaging findings in dystonia. Read More

View Article and Full-Text PDF

Response to "Response to isolated head tremor: A DAT-SPECT and somatosensory temporal discrimination study".

Parkinsonism Relat Disord 2021 May 27. Epub 2021 May 27.

Department of Human Neuroscience, Sapienza University of Rome, Viale Dell'Università 30, 00185, Rome, Italy; IRCCS NEUROMED, Via Atinense 18, 86077, Pozzilli, Italy. Electronic address:

View Article and Full-Text PDF

A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the gene.

Int J Neurosci 2021 Jun 2:1-4. Epub 2021 Jun 2.

Rehabilitation and Treatment Centre for Cerebral Palsy, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

A 6-month-old male infant who presented with developmental delay and suspected cerebral palsy was diagnosed with infantile parkinsonism-dystonia-2 (MIM: 618049). The whole-exome sequencing identified a homozygous c.710C > T (p. Read More

View Article and Full-Text PDF

A Scientometric Analysis of the 100 Most Cited Articles on Pallidotomy.

Stereotact Funct Neurosurg 2021 Jun 2:1-11. Epub 2021 Jun 2.

Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.

Background: Pallidotomy is the oldest stereotactically performed neurosurgical procedure for movement disorders. Consequently, there is a wealth of literature available on the topic.

Objectives: The aim of this analysis was to identify the top-cited articles on pallidotomy in order to discern the origins, spread, the current trends, and the future directions of this surgical procedure. Read More

View Article and Full-Text PDF

Mineralizing angiopathy with basal ganglia stroke after minor head trauma; a clinical profile and follow up study of a large series of paediatric patients from North India.

Eur J Paediatr Neurol 2021 May 26;33:61-67. Epub 2021 May 26.

Departments' of Paediatrics & Paediatric Neurology, Santokba Durlabhji Memorial Hospital, Jaipur, India. Electronic address:

Background: There is paucity of published literature on follow-up outcome of mineralizing angiopathy with basal ganglia stroke related to minor head trauma. This retrospective study aims to bridge this knowledge gap.

Methods: Patients (1 months- 15 years), presenting with acute stroke over a 5-year period were recruited. Read More

View Article and Full-Text PDF

Cognitive deficits in episodic Ataxia type 2 mouse models.

Hum Mol Genet 2021 Jun 2. Epub 2021 Jun 2.

Behavioral Neuroscience, Ruhr-University Bochum, D-44780 Bochum, Germany.

Episodic ataxia type 2 (EA2) is a rare autosomal dominant disorder characterized by motor incoordination, paroxysmal dystonia, vertigo, nystagmus and more recently cognitive deficits. To date over 100 mutations in the CACNA1A gene have been identified in EA2 patients leading to a loss of P/Q-type channel activity, dysfunction of cerebellar Purkinje cells (PC) and motor incoordination. To determine if the cerebellum is contributing to these cognitive deficits, we examined 2 different EA2 mouse models for cognition impairments where CACNA1A was removed specifically from cerebellar Purkinje or granule cells postnatally. Read More

View Article and Full-Text PDF

A practical guide to troubleshooting pallidal deep brain stimulation issues in patients with dystonia.

Parkinsonism Relat Disord 2021 May 24. Epub 2021 May 24.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

High frequency deep brain stimulation (DBS) of the internal portion of the globus pallidus has, in the last two decades, become a mainstream therapy for the management of medically-refractory dystonia syndromes. Such increasing uptake places an onus on movement disorder physicians to become familiar with this treatment modality, in particular optimal patient selection for the procedure and how to troubleshoot problems relating to sub-optimal efficacy and therapy-related side effects. Deep brain stimulation for dystonic conditions presents some unique challenges. Read More

View Article and Full-Text PDF

Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia.

Life (Basel) 2021 May 24;11(6). Epub 2021 May 24.

Department of Neurosurgery, Graduate School of Biomedical Sciences, Tokushima University, Tokushima 770-8503, Japan.

Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are needed to better understand the efficacy of DBS for treating TD. Read More

View Article and Full-Text PDF

Deep Brain Stimulation and Hypoxemic Perinatal Encephalopathy: State of Art and Perspectives.

Life (Basel) 2021 May 25;11(6). Epub 2021 May 25.

Unité "Pathologies Cérébrales Résistantes", Department of Neurosurgery, Montpellier University Hospital, 34295 Montpellier, France.

Cerebral palsy (CP) is a heterogeneous group of non-progressive syndromes with lots of clinical variations due to the extent of brain damages and etiologies. CP is majorly defined by dystonia and spasticity. The treatment of acquired dystonia in CP is very difficult. Read More

View Article and Full-Text PDF

Nonlinear Changes in Botulinum Toxin Treatment of Task-Specific Dystonia during Long-Term Treatment.

Toxins (Basel) 2021 05 22;13(6). Epub 2021 May 22.

Institute of Music Physiology and Musicians' Medicine, University of Music, Drama and Media Hannover, Neues Haus 1, 30175 Hanover, Germany.

Botulinum toxin (BoTX) is the standard treatment for task-specific dystonias (TSDs) such as musician's dystonia (MD). Our aim was to assess the long-term changes in BoTX treatment in a highly homogeneous and, to our knowledge, largest group of MD patients with respect to the following parameters: (1) absolute and (2) relative BoTX dosage, (3) number of treated muscles, and (4) inter-injection interval. We retrospectively assessed a treatment period of 20 years in 233 patients, who had received a cumulative dose of 68,540 MU of BoTX in 1819 treatment sessions, performed by two neurologists. Read More

View Article and Full-Text PDF

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

J Clin Med 2021 May 12;10(10). Epub 2021 May 12.

IRCCS Fondazione Stella Maris, 56018 Pisa, Italy.

Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Read More

View Article and Full-Text PDF

The Role of Ultrasound for the Personalized Botulinum Toxin Treatment of Cervical Dystonia.

Toxins (Basel) 2021 05 20;13(5). Epub 2021 May 20.

Institute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany.

The visualization of the human body has frequently been groundbreaking in medicine. In the last few years, the use of ultrasound (US) imaging has become a well-established procedure for botulinum toxin therapy in people with cervical dystonia (CD). It is now undisputed among experts that some of the most relevant muscles in this indication can be safely injected under visual US guidance. Read More

View Article and Full-Text PDF

Association of the Yips and Musculoskeletal Problems in Highly Skilled Golfers: A Large Scale Epidemiological Study in Japan.

Sports (Basel) 2021 May 21;9(6). Epub 2021 May 21.

Department of Neurology, Graduate School of Medicine, Osaka University, 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan.

The yips are a set of conditions associated with intermittent motor disturbances that affect precision movement, especially in sports. Specifically, skilled golfers suffer from the yips, although its clinical characteristics and pathophysiology have not been well-studied. We surveyed skilled golfers to characterize their yips-related symptoms, to explore potential confounding factors associated with the yips. Read More

View Article and Full-Text PDF