PARK17 genetic Parkinson's disease (PD)

Evidence-based neurology checklist on park17 genetic parkinson's disease (pd): Genetics This is caused by mutations in the VPS35 gene on chromosome 16q The transmission is autosomal dominant It presents with features of typical idiopathic PD The mean onset age is 52-53 years There are no Lewy…

Genetics

  • This is caused by mutations in the VPS35 gene on chromosome 16q
  • The transmission is autosomal dominant
  • It presents with features of typical idiopathic PD
  • The mean onset age is 52-53 years
  • There are no Lewy bodies

Clinical features

Treatment

References

  1. Wider C, Skipper L, Solida A, et al. Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Parkinsonism Relat Disord 2008; 14:465-470. 
  2. Zimprich A, Benet-Pagès A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011; 89:168-175. 
  3. Deng H, Gao K, Jankovic J. The VPS35 gene and Parkinson's disease. Mov Disord 2013; 28:569-575.
  4. Kumar KR, Weissbach A, Heldmann M, et al. Frequency of the D620N mutation in VPS35 in Parkinson disease. Arch Neurol 2012; 69:1360-1364.

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