PARK20 genetic Parkinson's disease (PD)

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

PARK20 genetic Parkinson's disease (PD). This is caused by mutations in the SYNJ1 gene on chromosome 21q. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain: features

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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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