Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)

  title={Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)},
  author={Giovanni Stevanin and Alexis Brice},
  journal={The Cerebellum},
Spinocerebellar ataxia 17 (SCA17) or Huntington’s disease-like-4 is a neurodegenerative disease caused by the expansion above 44 units of a CAG/CAA repeat in the coding region of the TATA box binding protein (TBP) gene leading to an abnormal expansion of a polyglutamine stretch in the corresponding protein. Alleles with 43 and 44 repeats have been identified in sporadic cases and their pathogenicity remains uncertain. Furthermore, incomplete penetrance of pathological alleles with up to 49… CONTINUE READING
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