Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Mutations in a newly identified gene which spans more than 500 kilobases and has 12 exons seem to be the cause of the pathogenesis of autosomal recessive juvenile parkinsonism (AR-JP). The protein product of this gene has been named 'Parkin.' There are similarities between Parkin and the ubiquitin family of proteins, which play a role in the pathogenesis of a number of neurodegenerative diseases and are an element of the Lewy bodies in Parkinson's disease. Parkin's defect in AR-JP could hamper the ubiquitin-mediated proteolytic pathway leading to the death of nigral neurons.