PARK6 genetic Parkinson's disease (PD)

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

PARK6 genetic Parkinson's disease (PD). This is caused by mutations in the PINK1 gene on chromosome 1p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PINK1 gene on chromosome 1p
  • The gene product localises to mitochondrial membranes
  • The transmission is autosomal recessive
  • There are associated Lewy bodies

Clinical features

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Treatment

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References

  1. Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology 2005; 64:1958-1960.
  2. Hatano Y, Sato K, Elibol B, et al. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology 2004; 63:1482-1485.
  3. Cookson MR. DJ-1, PINK 1 and their effects on mitochondrial pathways. Mov Disord 2010; 25(Suppl 1):S44-S48.
  4. Gandhi S, Muqit MMK, Stanyer L, et al. PINK1 protein in normal human brain and Parkinson’s disease. Brain 2006; 129:1720–1731.
  5. Samaranch L, Lorenzo-Betancor O, Arbelo JM, et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 2010; 133:1128-1142.

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