PARK17 genetic Parkinson's disease (PD)

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

PARK17 genetic Parkinson's disease (PD). This is caused by mutations in the VPS35 gene on chromosome 16q. Fully referenced neurology checklist.

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

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Treatment

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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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