PARK7 genetic Parkinson's disease (PD)

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

PARK7 genetic Parkinson's disease (PD). This is caused by mutations in the DJ1 gene on chromosome 1p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the DJ1 gene on chromosome 1p
  • The transmission is autosomal recessive
  • It is associated with Lewy bodies

Neurological features

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Psychiatric features

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Treatment

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References

  1. van Duijn CM, Dekker MC, Bonifati V, et al. Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet 2001; 69:629-634. 
  2. Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 2003; 54:283-286.
  3. Annesi G, Savettieri G, Pugliese P, et al. DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Ann Neurol 2005; 58:803-807.
  4. Taipa R, Pereira C, Reis I, et al. DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology. Brain 2016; 139:1680-1687.

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