Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…Living with Ataxia in Ireland 2016–a nationwide survey of 130 Irish patients with inherited Ataxia
Objective: To collect real-life data from a large cohort of patients with inherited ataxia in Ireland, with special attention to the individual ataxia-related healthcare resources…Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…SPG7-related ataxia in the Irish National Ataxia Clinic cohort: case series
Objective: To present comprehensive clinical, optical coherence tomography (OCT) and genetic findings on SPG7 –related cohort attending the National Ataxia Clinic in Ireland. Background: Hereditary…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.