Genotype-phenotype correlations in Parkinson disease patients who carry mutations in the GBA gene.
Objective: To assess genotype-phenotype relationship between mild and severe GBA mutation carriers among patients with Parkinson's disease Background: Mutations in the Glucocerebrocidase gene (GBA) are…A neuronal model of PARK20 (SYNJ1 mutation) using patient derived iPSCs
Objective: The SYNJ1 homozygous mutation (p.Arg258Gln) leads to juvenile Parkinsonism (PARK20). SYNJ1 plays an important role in synaptic vesicle cycling, and regulating autophagic flux. We…Interest in Genetic Testing in Parkinson’s disease patients with DBS
Objective: To determine interest in genetic testing among Parkinson’s disease (PD) patients with deep brain stimulation (DBS). Background: Nearly 27% of patients with early-onset PD…Impulse Control Disorders in Early Onset and Familial PD
Objective: To characterize impulse control problems in early onset and familial PD (EOPD and FPD). Background: Impulse control disorders are a set of pathological behaviours…Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s disease
Objective: To determinate the frequencies of lysosomal glucocerebrosidase (GBA) common mutations in a large sample of neurodegenerative diseases including Alzheimer Disease (AD), Lewy Body Dementia (LBD), Amyotrophic…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:…Genetic and Clinical Analysis of Cerebral Calcifications
Objective: Genetic and clinical analysis in primary cerebral calcification. Background: Cerebral calcification is associated with a variety of disorders of different aetiologies. To date, the primary…Reviewing the Clinical and Mutational Spectrum of SLC20A2 Mutations in Primary Familial Brain Calcification (PFBC) for MDSGene
Objective: Following the MDSGene protocol, we here present the clinical and mutational spectrum of SLC20A2 mutations, thereby adding the first gene found to be mutated…
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