Primary familial brain calcification – The impact of calcifications on the development of motor symptoms
Objective: The aim of the present study was to investigate whether the nigro-striatal system in a genetic mouse model of primary familial brain calcification (PFBC)…A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate whether treatment with the iron-chelating drug deferiprone (DFP) has benefit in patients with pantothenate kinase-associated neurodegeneration (PKAN), the most common form of…Deep brain stimulation for monogenic Parkinson’s disease: A systematic review
Objective: The aim was to systematically investigate the outcome of deep brain stimulation (DBS) in genetic Parkinson’s disease (PD) compared to the patients with documented…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…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…
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