Testing candidate transcriptional biomarkers of asymtpomatic and symptomatic stages in spinocerebellar ataxia type 3 (SCA3)
Objective: To investigate the potential of nine candidate genes as transcriptional biomarkers of asymptomatic and symptomatic stages of spinocerebellar ataxia type 3 (SCA3). Background: An…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…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…Evaluating the effects of deep brain stimulation (DBS) in mice with spinocerebellar ataxia (SCA1)
Objective: To determine the therapeutic effects of Deep Brain Stimulation (DBS) in mice with Spinocerebellar Ataxia (SCA1). Background: Ataxia is a movement disorder affecting balance…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…Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing
Objective: To establish clinical significance of novel recessive ataxia mutations by phenotype-genotype correlation and screening of mutations in second cohort of recessive ataxia patients and…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…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…Iron accumulation and volume loss in the extrapyramidal motor system in Friedreich ataxia: The IMAGE-FRDA study
Objective: To examine whether iron dysregulation and neurodegeneration influences the motor system outside of the cerebellum in Friedreich ataxia (FRDA). Background: FRDA is an autosomal…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…