Movement Disorders and Clinical Progression in Spinocerebellar Ataxias
Objective: To study the prevalence and influence of movement disorder signs in SCAs. Background: Movement disorders are common features in spinocerebellar ataxias (SCAs) but their…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…Corticospinal tract dysfunction precede the cerebellar syndrome in spinocerebellar ataxia 2
Objective: To evaluate if corticospinal tract (CST) dysfunction appears before the cerebellar syndrome in SCA2 Background: Studies of corticospinal tract (CST) function in prodromal spinocerebellar…Allelic CACNA1A disorders: a retrospective cohort analysis on clinical course and overlapping features
Objective: To (1) retrospectively study emerging clinical symptoms and disease course in a cohort of patients with genetically proven CACNA1A mutations and (2) to define…Abnormal findings in polisomnographic records of patients with spinocerebellar ataxia type 2 (SCA2)
Objective: The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Background: Similar to other…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.