Neuroferritinopathy pedigree in 2 families from India
Objective: The abstract provides description of first case report of two Indian families with Neuroferritinopathy (NFT) pedigree. Background: NFT is a rare autosomal dominant movement disorder caused…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…Atypical parkinsonism in C9orf72 expansions: A case report and systematic review of 45 cases from the literature
Objective: To provide a systematic clinical characterisation of C9orf72-associated parkinsonism. Background: While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis…Preliminary results for a study on quality of life in Huntington’s disease patients and their caregivers in Peru
Objective: To quantitatively and qualitatively explore the determinants of quality of life (QOL) in Huntington's Disease (HD) patients and their caregivers in Peru. Background: HD…A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
Objective: This study includes the evaluation of a comprehensive spectrum of neurological features and the mutational screening of the SPG4/SPAST gene in patients with hereditary…No RAB39B gene mutations in Chinese familial Parkinson’s disease
Objective: To validate the susceptibility to familial PD patients caused by RAB39B in Chinese Han population. Background: Recently, RAB39B mutations c.503C>A and c.574G>A have been…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.