PARK2 genetic Parkinson's disease (PD)

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

PARK2 genetic Parkinson's disease (PD). This is caused by mutations in the PRKN (parkin) gene on chromosome 6q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PRKN (parkin) gene on chromosome 6q
  • The gene product is ubiquitin
  • The transmission is autosomal recessive
  • Lewy bodies are often absent

Epidemiological features

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Onset features

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Treatment

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References

  1. Takahashi H, Ohama E, Suzuki S, et al. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 1994; 44:437-441.
  2. Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996; 47:160-166.
  3. de Schipper LJ, Boon AJW, Munts AG. Foot drop dystonia resulting from parkin (PARK2) mutation. Move Disord Clin Pract 2015; 2:292-294.

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