4-Aminopyridine improves downbeat nystagmus in SCA27b: A case report
Objective: To assess objective clinical improvement in video-oculography in a patient with SCA27b on 4-aminopyridine (4-AP) treatment. Background: Spinocerebellar ataxia 27b (SCA27b; MIM 620174) is…NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain
Objective: To evaluate the diagnosis rate of Next Generation Sequencing (NGS) in a combined series of patients with progressive cerebellar ataxia (CA) and progressive spastic…Expanding the Phenotype of a Novel Mutation in ELOVL4 and the Differential Diagnosis of the Hot Cross Bun Sign
Objective: To describe the clinical and radiological characteristics of three independent families affected by SCA 34 due to a recently identified mutation in ELOVL4. Background:…Progressive Apraxia of Speech as a Presenting Symptom of Spinocerebellar Ataxia Type 2
Objective: To describe a spinocerebellar ataxia (SCA) presenting with progressive apraxia of speech (AOS), a previously undescribed SCA phenotype. Background: Spinocerebellar ataxia type 2 (SCA2)…Spectrum of Non-HD Hereditary Chorea- Case Series from An Indian Movement Disorder Centre
Objective: To identify and characterize the hereditary chorea other than Huntington’s disease (HD) in an Indian movement disorder clinic. Background: Approximately 1-3% of HD phenotypes…A Phase IIb Double-Blind Placebo-Controlled Randomized Cross-Over Clinical Trial of Sodium Oxybate in Isolated Focal Laryngeal Dystonia
Objective: A phase IIb double-blind, placebo-controlled, cross-over, randomized clinical trial of a single dose of sodium oxybate investigated the efficacy and safety of the drug…Paroxysmal non-kinesigenic dyskinesia: atypical neurological presentation of Lyme neuroborreliosis
Objective: To describe unusaul case of paroxysmal non-kinesigenic dyskinesia due to Lyme neuroborreliosis in a elderly female patient. Background: Nervous system Lyme disease is common…Ataxic-spastic gait: a form of presentation of DYT5/DYT-GCH1
Objective: Describe a case of DYT5/DYT-GCH1 presenting with an ataxic-spastic gait Background: DYT5/DYT-GCH1 is an autosomal dominant disease typically characterized by lower limb dystonia starting…GABA in the Basal Ganglia Tracks Motor Severity and Response to BoNT Treatment in Cervical Dystonia
Objective: Determine if GABA and glutamate levels within sensorimotor network nodes correlate with symptom severity in cervical dystonia (CD) and are altered by botulinum neurotoxin…Validation of the Korean Version of the Huntington’s Disease Quality of Life Battery for Carers
Objective: This study aimed to develop a Korean version of the Huntington's disease (HD) quality of life battery for carers (K-HDQoL-C) to assess disease-related burden…
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