The phenotypic spectrum and assessment of severity in patients of Spinocerebellar Ataxia-12.
Objective: To describe clinical phenotype, manifestations, and assess tremor severity using standard rating scale in genetically confirmed patients with SCA12. Background: Spinocerebellar Ataxia-12 (SCA12) occurs…Severe parkinsonism late-onset in Wilson’s disease without typical basal ganglia involvement
Objective: Wilson's disease (WD) is an autosomal-recessive copper metabolism disease caused by ATP7B mutations. Background: Here we described an interesting case of WD. Method: A…Cardiovascular complications in Parkinsonism: insights from Luxembourg Parkinson’s Study
Objective: Our study aimed at determining the frequency and risk of cardiovascular diseases (CVDs) in Parkinsonian patients in the Luxembourg Parkinson’s Study (LuxPARK). Background: The…Using Long read sequencing to identify complex structural variants in PRKN-PD
Objective: Identify complex structural variants in PRKN gene from Parkinson’s disease patients. Background: PRKN is the most frequent causative gene in young onset Parkinson's disease…Parkinsonism in sjogren disease
Objective: explain the cause of parkinsonism in Sjogren's syndrome Background: Sjogren's syndrome (SS) may be associated with various pathologies of the central nervous system. It…Relationship between agricultural vulnerability to organic compound fungicides and herbicides and Parkinson’s disease incidence in rural population in northern India
Objective: In the Indian agricultural health study cohort, we evaluated the relationship between prospective exposures to organic fungicides and herbicides and the incidence of Parkinson's…Movement Disorders (MD) Specialist Nurse pilot project in Australia’s Northern Territory (NT): One year of experience.
Objective: The MD Specialist Nurse, a project funded by the Commonwealth of Australia started 1 year ago to provide access to specialist nursing care and…Quasi tandem repeat in TCERG1 may influence age at onset of X-linked dystonia-parkinsonism
Objective: To investigate whether the hexamer repeat in the TCERG1 gene plays a role in modifying disease onset in X-linked dystonia-parkinsonism (XDP). Background: Recently, it…Genetic and functional analysis of CCDC88C mutations in patients with Parkinson’s disease.
Objective: To investigate the association between rare deleterious CCDC88C variants and PD. Background: SCA40 is a rare form of spinocerebellar ataxia caused by heterozygous mutations…Myotonic Dystrophy type 1 presenting as postural tremor
Objective: Description of a clinical case of extra-pyramidal features in a patient with myotonic dystrophy type 1. Background: Myotonic dystrophy type 1 (MD-1) is an…
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