Huntington’s disease (HD): genetics and variants

Evidence-based neurology checklist on huntington’s disease (hd): genetics and variants: Genetics It is caused by mutations in the Huntingtin (HTT) gene on chromosome 4p It is a CAG trinucleotide expansion repeat disorder It is also caused by mutations in the C9orf72 gene: C9orf72 is an HD…

Genetics

  • It is caused by mutations in the Huntingtin (HTT) gene on chromosome 4p
  • It is a CAG trinucleotide expansion repeat disorder
  • It is also caused by mutations in the C9orf72 gene: C9orf72 is an HD phenocopy
  • The transmission is autosomal dominant

CAG trinucleotide expansion

Juvenile onset HD variant

Late onset HD (LOHD) variant

References

  1. Evans SJW, Douglas I, Rawlins MD, Wexler NS, Tabrizi SJ, Smeeth L. Prevalence of adult Huntington’s disease in the UK based on diagnoses recorded in general practice records. JNNP 2013; 84:1156–1160.
  2. Carroll JB, Bates GP, Steffan J, Saft C, Tabrizi SJ. Treating the whole body in Huntington's disease. Lancet Neurol 2015; 14:1135-1142.
  3. Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network. Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology 2016; 87:571-578. 
  4. Moss DJH, Poulter M, Beck J, et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology 2014; 82:292–299.
  5. Fusilli C, Migliore S, Mazza T, et al. Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis. Lancet Neurol 2018; 17:986-993.
  6. And 5 more. Subscribe to see the full list

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