PARK19 genetic Parkinson's disease (PD)

Evidence-based neurology checklist on park19 genetic parkinson's disease (pd): 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 Clinical features of PARK 19B

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

Clinical features of PARK 19B

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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