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 a) rigidity b) resting tremor c) bradykinesia - subset of patients manifest additional symptoms, including a) hyperreflexia b) autonomic instability c) dementia d) psychiatric disturbances - symptoms show diurnal fluctuation & can improve after sleep

Database Correlations

OMIM 605909 Entrez Gene 113879

References

- Valente EM et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304:1158-60, 2004 PMID: 15087508