New pathogenic mutation in the Niemann-Pick C (NPC) Type 1 gene: Confirmation by diagnostic workup of NPC in a 41-year-old woman with idiopathic late onset cerebellar ataxia (ILOCA)
Objective: We present an instructive case of a 41-year-old woman with idiopathic late onset cerebellar ataxia. Background: Identifying the cause of idiopathic late onset cerebellar…Downbeat nystagmus and progressive ataxia mimicking a neurodegenerative disease: a specific phenotype of Chiari malformation
Objective: Case Report. Background: Chiari malformation type 1 (CM1) is a congenital neurological disease with posterior fossa hypoplasia and the cerebellar tonsils being forced through…Gerstmann-Sträussler-Scheinker disease presenting as a late onset slowly progressive spinocerebellar ataxia: expanding the phenotypic spectrum of genetic prion disease
Objective: We describe a late-onset presentation of Gerstmann-Sträussler-Scheinker disease (GSS) with a novel mutation in the prion protein (PRNP) gene. We compare this case to…Deutetrabenazine Reduces Involuntary Movements in Patients Most Severely Impacted by Tardive Dyskinesia in a 3-year Open-Label Extension Trial
Objective: To evaluate the efficacy of deutetrabenazine (DTBZ) in reducing TD in the most severely impacted patients using data from an ongoing open-label extension (OLE)…Substantia nigra echogenicity as a predictor of drug withdrawal response in suspected drug-induced parkinsonism: a five year follow-up study
Objective: To asses the role of transcranial sonography in suspected drug-induced parkinsonism. Background: Differential diagnosis between drug-induced parkinsonism (DIP) and Parkinson’s disease (PD) is challenging,…Patient experiences of cervical dystonia management with botulinum toxin A: A comparison of US versus European survey findings
Objective: Evaluate differences in the botulinum neurotoxin type A (BoNT-A) treatment experience between patients with cervical dystonia (CD) treated in the United States (US) versus…Mutation screening and clinical features analysis in patients with early-onset primary dystonia
Objective: In this context, it is important to reveal the mutation frequency of primary dystonia related genes using target dystonia related gene panel among a…Late-Onset Dopa-Responsive Dystonia: A Case Report
Objective: To present a rare cause of treatable dystonia with onset during adulthood. Background: L-Dopa-responsive dystonia is an inherited disorder characterized by early-onset dystonia affecting…An aberrant embouchure dystonia network predicts objective and functional measures of severity
Objective: To investigate functional brain networks underlying focal embouchure dystonia (FED) using resting-state functional connectivity (FC) magnetic resonance imaging and to correlate abnormal connectivity with…What is holding back apomorphine therapy for Parkinson’s disease? Identifying knowledge gaps amongst Thai neurological medical professionals
Objective: To assess the level of understanding about, and identify knowledge gaps in, apomorphine therapy amongst Thai neurological medical professionals. Background: Continuous subcutaneous apomorphine infusion…
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