Article
Autosomal recessive parkinsonism.
Parkinsonism & related disorders - 1 Jan 2012
Bonifati Vincenzo
Abstract excerpt
Several forms of autosomal recessive parkinsonism are known. In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. Parkin mutations are most frequent, explaining -50% of the cases with a clinical diagnosis of familial Parkinson's disease compatible with recessive inheritance and...
Topics
- Animals
- DNA Mutational Analysis
- Humans
- Mutation
- Parkinsonian Disorders
