Parkin-associated Parkinson’s disease

The discovery of the Parkin gene in 1998 cemented the concept that mutations in a single gene can cause Parkinson’s disease (PD). Parkin mutations are the most common known cause of early-onset PD, accounting for up to 77% of the cases with an age of onset <30 years [1]. In this chapter, we will give an overview of the clinical and pathological features of Parkin-associated PD, followed by a detailed description of the Parkin gene and protein. We will cover known functions of Parkin and disease models and finally consider issues of genetic testing and new therapeutic perspectives.