Identification of Mutations in PARK8, a Locus for Familial Parkinson's Disease

Technology #2004-185

Discovery of the genetic cause of clinical, late-onset (typical) Parkinson’s disease in multiple families with an autosomal pattern of disease inheritance. Six coding mutations have now been identified within eight families, in a novel gene that is comprised of 61 exons (alternately spliced) that encodes a protein of ~280kD. The gene is located on chromosome 12p11.2-q13.1 and is responsible for disease linked to PARK8 (OMIM % 607060).