Parkin: Clinical aspects and neurobiology

A variety of mutations in parkin are linked to autosomal recessive Parkinson's disease (PD). Mutations in parkin may be one of the most common causes of autosomal recessive PD. Parkin is an E3 ubiquitin-protein ligase and familial associated mutations disrupt the E3 ligase activity, thus implicating derangements in the ubiquitin proteasomal pathway in the pathogenesis of PD. We review the clinical and neuropathological features of Parkinson's disease caused by parkin mutations. In addition, we discuss the emerging evidence that parkin is an E3 ubiquitin-protein ligase and how derangements in its E3 ligase activity might cause autosomal recessive PD.