Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…The scale for assessment and rating of ataxia in early onset ataxia; always a reliable biomarker?
Objective: To determine the reliability and discriminant validity of the Scale for Assessment and Rating of Ataxia (SARA) in early onset ataxia. Background: Early onset…A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?
Objective: To study the extent of phenotypic variability in SCA2 families of Indian origin and to identify factors associated with it. Background: SCA2 is a…Olfaction analysis in spinocerebellar ataxia type 10 and type 3 comparing with healthy controls and PD
Objective: To Analyse olfaction in spinocerebellar ataxia type 10 and type 3. Background: The main clinical manifestations of spinocerebellar ataxias (SCA) result from the involvement…Prolonged cerebellar syndrome after Legionnaire’s disease
Objective: Present rare case of ataxia and tremor one year following Legionella infection with CNS symptoms. Background: Transient, acute neurological syndromes may occur in patients…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.…A unique phenotype associated with anti-GAD antibodies
Objective: To describe a case of hemiatiaxia, parkinsonism, and dystonia associated with anti-Glutamic Acid Decarboxylase (GAD) antibodies. Background: GAD antibodies have been implicated in endocrinopathies…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…A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)
Objective: We report a novel cause for SCA19. We obtained longitudinal exam data on the index case, and data on other family members. We conducted…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.