Parkinson's disease 6, autosomal recessive

Genetics

• autosomal recessive
• associated with mutation in gene for PINK1 (PTEN induced putative kinase 1)

Clinical manifestations

• parkinsonian signs including
  • rigidity
  • resting tremor
  • bradykinesia
• subset of patients manifest additional symptoms, including
  • hyperreflexia
  • autonomic instability
  • dementia
  • psychiatric disturbances
• symptoms show diurnal fluctuation & can improve after sleep

More general terms

• familial Parkinson's disease

Database

• OMIM: https://mirror.omim.org/entry/605909
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=113879