Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…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…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…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:…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…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…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…A health cost analysis for Huntington disease in Peru
Objective: To estimate economic costs of caring for an individual with Huntington disease from the patients and caregivers perspective. Background: Huntington disease (HD) is a…