PARK6 genetic Parkinson's disease (PD)

Evidence-based neurology checklist on park6 genetic parkinson's disease (pd): 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…

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

Treatment

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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