Spinocerebellar ataxia type 7 (SCA7)

Evidence-based neurology checklist on spinocerebellar ataxia type 7 (sca7): Genetics This is caused by mutations in the ATXN7 (Ataxin 7) gene on chromosome 3p There are CAG repeat expansions with prominent anticipation 44-85 repeats are pathogenic The transmission is autosomal dominant The…

Genetics

  • This is caused by mutations in the ATXN7 (Ataxin 7) gene on chromosome 3p
  • There are CAG repeat expansions with prominent anticipation
  • 44-85 repeats are pathogenic
  • The transmission is autosomal dominant
  • The phenotypes range from asymptomatic to severe

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Katagiri S, Hayashi T, Takeuchi T, et al. Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. Doc Ophthalmol 2015; 130:189-195.
  2. Gu W, Wang Y, Liu X, Zhou B, Zhou Y, Wang G. Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. Arch Neurol 2000; 57:1513-1518.
  3. Martin J, Van Regemorter N, Del-Favero J, Löfgren A, Van Broeckhoven C. Spinocerebellar ataxia type 7 (SCA7)-correlations between phenotype and genotype in one large Belgian family. J Neurol Sci 1999; 168:37-46.
  4. Lin Y, Zheng JY, Jin YH, Xie YC, Jin ZB. Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. Neurosci Lett 2008; 434:230-233. 
  5. Gómez-Coello A, Valadez-Jiménez VM, Cisneros B, et al. Voice alterations in patients with spinocerebellar ataxia type 7 (SCA7): clinical-genetic correlations. J Voice 2017; 31:123.e1-123.e5.
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