Spinocerebellar ataxia type-17: An Indian Scenario
Objective: We aimed to investigate status of SCA17 in Indian population and tried to minimise the category of unidentified cerebellar ataxia cases. Background: Spinocerebellar ataxia…TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs
Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…Magnetic resonance imaging in spinocerebellar ataxias: A systematic review
Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar…Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample
Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…Screening for SLC25A46 mutations in familial and sporadic ataxic patients
Objective: To identify possible mutations of the SLC25A46 gene in patients with various forms of ataxia. Background: Members of the solute carrier family 25 (SLC25)…Biochemical evaluation in patients with suspected ataxia related to CoQ10 deficiency
Objective: To investigate CoQ10 levels through skin fibroblasts in patients with suspected ataxia related to CoQ10 deficiency. Background: CoQ10 deficiency may cause complex forms of…STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations
Objective: (1) To provide phenotypic and imaging evidence for a widespread neurodegenerative process caused by mutations in CHIP, thus demonstrating a close clinical correspondence to…Huntington disease phenocopies or misdiagnosis: A black South African cohort
Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…Fragile X-associated tremor/ataxia syndrome in two female patients
Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series
Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.