PARK20 genetic Parkinson's disease (PD)

Evidence-based neurology checklist on park20 genetic parkinson's disease (pd): Genetics This is caused by mutations in the SYNJ1 gene on chromosome 21q The transmission is autosomal recessive The onset is in the young adult age Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the SYNJ1 gene on chromosome 21q
  • The transmission is autosomal recessive
  • The onset is in the young adult age

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Krebs CE, Karkheiran S, Powell JC, et al. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat 2013; 34:1200-1207.
  2. Quadri M, Fang M, Picillo M, et al. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Hum Mutat 2013; 34:1208-1215.

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