Molecular changes of a de novo missense variant in VPS16 in dystonia
Objective: To present an early-onset dystonia patient with a de novo VPS16 missense variant, along with molecular characterization. Background: Mutations of the adaptor protein vacuolar…DNMSQuest: a simple tool for identifying mood disorders in cervical dystonia?
Objective: To compare DNMSQuest scores with validated measures of mood disorder in cervical dystonia patients attending a hospital botulinum toxin clinic. We wished to determine…Gait Dysfunction in Blepharospasm
Objective: Characterizing gait in blepharospasm patients. Background: Blepharospasm ranges from frequent blinking to forced eye closure potentially causing functional blindness that can impair walking. Gait…Non-Motor Symptoms in Cervical Dystonia Patients
Objective: to research the clinical and neurological features, non-motor states and quality of life in CD patients. Background: Cervical dystonia (CD) is a movement disorder…Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.
Objective: To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases…MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…Characterizing the temporal discrimination threshold in musician’s dystonia
Objective: To compare the temporal discrimination threshold (TDT) between musician's dystonia (MD) patients, healthy musicians and non-musician controls. Background: MD is a focal, task specific…Exploring Local Field Potential changes in Dystonic Camptocormia.
Objective: To describe a novel technology for detection of local field potentials in bilateral GPi-DBS to identify local field potential biomarker changes in dystonic camptocormia.…Dystonic tremor and ataxia as presenting symptoms of multiple sclerosis
Objective: Introduction Tremor in multiple sclerosis (MS) has traditionally been thought to be a feature of advanced disease and pathophysiology of MS tremor is known…Is Generalized and Segmental Dystonia Accompanied by Impairments of the Dopaminergic System?
Objective: To investigate functional dopaminergic impairments in dystonia, we compared patients with dystonia and Parkinson’s disease (PD) with normal controls using neuromelanin-sensitive magnetic resonance imaging…
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