title: Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
abstract: BACKGROUND
  Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking.
  
  
  OBJECTIVE
  To characterize a family with combined SCA2 and SCA10 mutations.
  
  
  METHODS
  Analysis of the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations.
  
  
  RESULTS
  The index case and his mother had both SCA2 and SCA10 mutations with a combined clinical phenotype of both disorders, including slow saccades (SCA2) and seizures (SCA10). The uncle of the index case had only an SCA10 mutation.
  
  
  CONCLUSIONS
  Although the presence of two SCA mutations in the same individuals may be coincidental, the low probability of having both mutations suggests that these mutations might be particularly prevalent in Bolivian population.
  
  
  CONCLUSIONS
  This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.
authors: Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.
authors: J F
authors: JF
authors: Baizabal-Carvallo
authors: Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
authors: G
authors: G
authors: Xia
authors: College of Medicine, University of Florida, Gainesville, FL, USA.
authors: P
authors: P
authors: Botros
authors: Hospital Universitario Japones, Santa Cruz, Bolivia.
authors: J
authors: J
authors: Laguna
authors: Department of Neurology and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.
authors: T
authors: T
authors: Ashizawa
authors: Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.
authors: J
authors: J
authors: Jankovic
mesh_terms: D000067736:Ataxin-10 / Q000235:genetics*; D000067698:Ataxin-2 / Q000235:genetics*; D001838:Bolivia; D042622:DNA Repeat Expansion / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics*
chemical_list: C503889:ATXN10 protein, human; C000593752:ATXN2 protein, human; D000067736:Ataxin-10; D000067698:Ataxin-2
keywords: ataxia; hereditary; spinocerebellar ataxia type 10; spinocerebellar ataxia type 2; spinocerebellar ataxias
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