Parkinsonism with intellectual disability

Evidence-based neurology checklist on parkinsonism with intellectual disability: Genetics This is caused by mutations in the PTRHD1 gene Mutations of the ADORA 1 gene are also probably involved The transmission is autosomal recessive Clinical features

Genetics

  • This is caused by mutations in the PTRHD1 gene
  • Mutations of the ADORA 1 gene are also probably involved
  • The transmission is autosomal recessive

Clinical features

References

  1. Khodadadi H, Azcona LJ, Aghamollaii V, et al. PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. Mov Disord 2017; 32:287-291.
  2. Jaberi E, Rohani M, Shahidi GA et al. Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction. Mov Disord 2016; 31:1004-1011. 
  3. Elahi E. PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability. Mov Disord 2018; 33:174.

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