title: Autosomal dominant hereditary ataxia in Sri Lanka.
abstract: BACKGROUND
  Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype.
  
  
  METHODS
  Thirty four patients with autosomal dominant ataxia were recruited. For every patient the following was done: recording of clinical details and genotyping for SCA 1, 2, 3, 6, 7, 8, 12, and 17.
  
  
  RESULTS
  Sixty one per cent of the subjects were identified as SCA1. One subject had SCA2, 12 remain unidentified. Mean age at onset was 34.8 ± 10years for SCA1 and 32.7 ± 9.8 for non SCA1. 76% of SCA1 patients and 50% of non SCA1 were using walking aids. Quantification of symptoms and signs were similar in the SCA1 and non SCA1 groups. Clinical depression was evidenced in 68.4% of SCA1 and 75% non SCA-1 patients. Mean CAG repeat length in SCA1 patients was 52.0 ± 3.8, with greater anticipation seen with paternal inheritance.
  
  
  CONCLUSIONS
  SCA1 was the predominant subtype and showed similar phenotype to previous reports. However, disease severity was higher and depression more prevalent in this population than previously described.
authors: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
authors: Dulika S
authors: DS
authors: Sumathipala
authors: Gayan S
authors: GS
authors: Abeysekera
authors: Rohan W
authors: RW
authors: Jayasekara
authors: Chantal M E
authors: CM
authors: Tallaksen
authors: Vajira H W
authors: VH
authors: Dissanayake
mesh_terms: D000328:Adult; D000067696:Ataxin-1; D000067528:Ataxins; D042622:DNA Repeat Expansion / Q000235:genetics; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D013188:Sri Lanka / Q000453:epidemiology
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins
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