A novel P159L mutation in the Parkin gene related to autosomal dominantly inherited late onset parkinsonism and protein aggregation

Mutations in the gene encoding the ubiquitin E3 ligase Parkin gene have been identified in autosomal recessively inherited forms of juvenile parkinsonism. Moreover single amino acid substitutions in the Parkin protein were linked to the common sporadic form of Parkinson disease (PD) acting as susceptibility alleles. We performed a mutation screening in the Parkin gene in 25 index patients of German PD families with one or more affected family members (mean age at disease onset 45.4±7.3 years). In two index patients of families with apparent autosomal dominant inheritance of PD we identified heterozygous point mu…