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…LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD
Objective: Analysis of positive LRRK2 and GBA gene mutations, demographic characteristics, and family history in 1200 consecutive Ashkenazi patients with PD who had genetic testing…PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability. Background:…Treatment Outcomes for Deep Brain Stimulation in Sex-Linked Dystonia Parkinsonism (XDP, DYT3) Up To 60 Months Follow-up – A Case Series
Objective: This case series presented the treatment outcomes of the eight (8) XDP patients who underwent DBS in a tertiary hospital and compared it to previous…A member of the HSP40/DNAJ family is a novel gene for early-onset parkinsonism
Objective: We aim to implicate novel genes/mutations using whole-exome sequencing (WES) in selected pedigrees. Background: Mutations have been identified in only 30% of familial parkinsonism.…Spanish Primary Familial Brain Calcification caused by SLC20A2 mutation
Objective: To describe clinical and radiological features of a Spanish family with Primary Familial Brain Calcification (PFBC) and genetic results of the index case. Background:…
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