Spinocerebellar ataxia type 17 (SCA17)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 17 (SCA17). This is caused by mutations in the TATA box-binding protein (TBP) gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the TATA box-binding protein (TBP) gene
  • The gene is on chromosome 6q
  • It is a CAG repeat expansion disease
  • Normal repeat number is 29-42: 47-55 repeats are pathogenic
  • The CAG repeat length is related to the degree of cerebellar atrophy
  • The transmission is autosomal dominant
  • The onset is in middle-age but early onset has been reported

Clinical features

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain

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MRI voxel-based morphometry (VBM)

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Pathological features

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Synonym

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References

  1. Nakamura K, Jeong SY, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001; 10:1441-1448.
  2. Yang S, Li XJ, Li S. Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. Rare Dis 2016; 4:e1223580. 
  3. Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003; 54:367-375.
  4. Filla A, De Michele G, Cocozza S, et al. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. Neurology 2002; 58:922-928.
  5. Reetz K, Kleiman A, Klein C, et al. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. PLoS One 2011; 6:e15125. 
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