Parkinson's disease (PD) genetics: classification

Evidence-based neurology checklist on parkinson's disease (pd) genetics: classification: Autosomal dominant PARK1 (SNCA) PARK3 PARK4 (SNCA) PARK5 (UCHL1) PARK8 (LRRK2) PARK11 (GIGYF2) PARK13 (HTRA2) PARK17 (VPS35) PARK18 (EIF4G1) PARK21 (TMEM230 or DNAJC13) PARK22 (CHCHD2) DCTN1: Perry syndrome…

Autosomal dominant

  • PARK1 (SNCA)
  • PARK3
  • PARK4 (SNCA)
  • PARK5 (UCHL1)
  • PARK8 (LRRK2)
  • PARK11 (GIGYF2)
  • PARK13 (HTRA2)
  • PARK17 (VPS35)
  • PARK18 (EIF4G1)
  • PARK21 (TMEM230 or DNAJC13)
  • PARK22 (CHCHD2)
  • DCTN1: Perry syndrome
  • NOTCH2NLC
  • RAB32

Autosomal Recessive

X-linked

Unclassified

Lysosomal storage disorders genes

Emerging genetic associations

References

  1. Dekker MCJ, Bonifati V, van Duijn CM. Parkinson’s disease: piecing together a genetic jigsaw. Brain 2003; 126:1722-1733.
  2. Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med 2012; 2:a008888.
  3. Martikainen MH, Päivärinta M, Hietala M, Kaasinen V. Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation. Neurol Genet 2015; 1:e27.
  4. Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007; 68:916-922. 
  5. Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998; 395:451-452. 
  6. And 39 more. Subscribe to see the full list

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