Targeting the intracellular localization of Ataxin-3 as novel treatment strategy for Spinocerebellar Ataxia Type 3
Objective: Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is an autosomal-dominantly inherited neurodegenerative disorder caused by a CAG expansion in the ATXN3 gene…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…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:…Balance in Spinocerebellar Ataxia (SCA): Comparison Between Type 10 and Type 3
Objective: To compare the balance in patients with SCA10 with SCA3. Background: Decreased balance and motor coordination are the main symptoms of Spinocerebellar Ataxias (SCA).…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…Severity Assessment, Functional Capacity and Balance in Patients with Spinocerebellar Ataxias (SCAs): comparison between types 3 and 10.
Objective: To compare the differences in the evolution in terms of severity, functional independence and balance in patients with SCAs type 3 and 10 Background:…Autosomal Dominant Spinocerebellar Ataxia Secondary to CACNA1G in a Patient of German Ancestry
Objective: We describe the case of a male patient of German ancestry with SCA 42. Background: Hereditary spinocerebellar ataxia (SCA) describes a heterogeneous group of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.