PARK19 genetic Parkinson's disease (PD)

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

PARK19 genetic Parkinson's disease (PD). This is caused by mutations in the DNAJC6 gene on chromosome 1p. Fully referenced neurology checklist.

Genetics of PARK 19A and 19B

  • This is caused by mutations in the DNAJC6 gene on chromosome 1p
  • The transmission is autosomal recessive

Clinical features of PARK 19A

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Clinical features of PARK 19B

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References

  1. Edvardson S, Cinnamon Y, Ta-Shma A, et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One 2012; 7:e36458.
  2. Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 2013; 19:320-324.
  3. Köroğlu Ç, Baysal L, Cetinkaya M, Karasoy H, Tolun A. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 2013; 19:320-324. 
  4. Edvardson S, Cinnamon Y, Ta-Shma A, et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One 2012; 7:e36458. 
  5. Olgiati S, Quadri M, Fang M, et al. DNAJC6 mutations associated with early-onset Parkinson's disease. Ann Neurol 2016; 79:244-256.

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