A novel intronic pentanucleotide TTTGA repeat insertion in SAMD12 causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the genetic cause in a familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree without reported pathogenic(TTTCA)n insertions. Background: FCMTE is an autosomal…BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews
Objective: Establish an Industry-Academic collaboration to identify factors contributing to disease progression in PD. Background: Ashkenazi Jews (AJ) are an excellent ethnic group in which…Development of a web-based tool for systematic collection of phenotypes of hereditary movement disorders from medical literature
Objective: To develop a web-based tool to collect phenotypes of heterditary movement disorders. Background: Deep phenotyping, the precise and comprehensive analysis of phenotypic abnormalities, is…Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?
Objective: To compare the phenotype of patients with Parkinson's disease (PD) who carry dual mutation in both LRRK2 and GBA genes with patients with PD…Genetic polymorphism (rs6971) in translocator protein (TSPO) and its clinical relevance in Parkinson’s disease
Objective: The objective of this study will be to identify specific clinical patterns in Parkinson’s disease patients with respect to TSPO genetic polymorphism (rs69711). Background:…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…Prevalence of Oropharyngeal Dysphagia in Hereditary Spastic Paraplegias
Objective: We aimed to assess the prevalence of swallowing disorder and to characterize the main clinical signs of dysphagia in genetically confirmed HSP patients. Background:…PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS
Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD) ARE CHARACTERIZED…Acquired hepatocerebral degeneration treated with calcium disodium edetate chelation
Objective: To evaluate the efficacy of calcium disodium edetate (CaNa2EDTA) chelation as a treatment for acquired hepatocerebral degeneration. Background: Acquired hepatocerebral degeneration is a rare…Texas Biorepository of Human Induced Pluripotent Stem Cells for Studying Parkinson’s Disease
Objective: To develop a biorepository of human induced pluripotent stem cells for studying Parkinson’s disease(PD). Background: Genetically engineered stem cells called “induced pluripotent stem cells”…
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