Cancer in Machado Joseph disease patients – Low frequency as a cause of death
Objective: To compare the 15 years cumulative incidence of cancer (CIC) and the proportion of cancer as a cause of death in symptomatic Spinocerebellar ataxia…CAG repeats number of ATXN7 in SCA7 patients and normal population in Japan
Objective: Patients with spinocerebellar ataxia type 7 (SCA7) have progressive ataxia associated with pigmental macular degeneration, pyramidal and extrapyramidal signs and some of them have…The nucleocytoplasmic transport of ataxin-3 as pathogenic mechanism in spinocerebellar ataxia type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is a neurodegenerative disorder caused by a CAG expansion in the MJD1 gene leading to…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…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…Phenotype and genotype variability of CACNA1A in a cohort of ataxia in Taiwan
Objective: To study the phenotype and genotype variability of CACNA1A in a cohort of ataxia. Background: CACNA1A gene encodes a voltage-dependent, P/Q type calcium channel…Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6
Objective: To study whether spinocerebellar ataxia type 6 (SCA6) patients have parkinsonism and striatal dopamine transporter (DAT) loss compared to gender- and age-matched healthy controls.…Natural history of saccadic abnormalities in spinocerebellar ataxia 2: Implications to designing future clinical trials
Objective: The present study was aimed to assess the progression of saccade involvement in SCA2 patients, identify its main determinants and evaluate its usefulness as…Prodromal criteria of spinocerebellar type 2: Lessons for physiopathology, natural history and therapeutical trials
Objective: To identify criteria defining the prodromal stage of spinocerebellar ataxia 2 (SCA2). Background: The prodromal stage of spinocerebellar ataxias has not been systematically studied…Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease
Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.