Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis
Objective: Elucidate the present status of clinical practice for spinocerebellar degeneration (SCD) in Minami-Boso area to plan future direction for managing this intractable condition. Background:…SNCA G51D missense mutation causing juvenile onset Parkinson’s disease
Objective: To report the clinical and genetic features in a Parkinson’s patient with the SNCA G51D missense mutation. Background: α-synuclein (SNCA) gene mutations are recognized…Targeted NGS of genes related to hereditary and sporadic NDDs and movement disorders in Italian cohort
Objective: We applied a genetic panel targeting genes causative of NDDs, but we also included several risk factor genes, to assess the efficacy of a targeted…LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Intensive speech rehabilitation in degenerative ataxias improves intelligility
Objective: To test the efficacy and tolerability of intensive home based treatment for dysarthria in ataxia Background: The loss of the ability to speak is…Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To provide a comprehensive quantitative and qualitative characterization of speech and swallowing function in ARSACS to support diagnostics, provide insights into the underlying pathology,…Postural Sway Complexity as a Measure of Motor Functionality in Fragile X Premutation Carriers
Objective: To assess changes in motor functionality of FMR1 premutation carriers at risk of developing Fragile X Associated Tremor/Ataxia Syndrome(FXTAS), through traditional and complexity-based measures…Novel GBA risk factor gene mutation p.W378R in a kindred with Gaucher’s disease and Parkinson’s disease
Objective: We undertook mutation analysis of the Glucocerebrosidase gene (GBA) gene in a large three-generational Australian kindred consisting of some individuals with both type 1…PLA2G6-related juvenile-onset Parkinsonism: clinical features and cognitive profile in a cohort of Chinese patients
Objective: Among young or juvenile onset Parkinson (PD) patients, we assessed cognitive and clinical performances, comparing homozygotes and compound heterozygotes who carry PLA2G6 pathogenic mutations…A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene
Objective: The aim of this abstract is to report a unique case of DAT positive Parkinson’s disease with a mutable Huntington’s gene. Background: Huntington’s disease…
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