Novel genetic mutation discovered in Parkinson's disease patient
he novel ACMSD mutation was identified during a genetic screening study of 62 PD patients on the Mediterranean island of Menorca, which were matched with 192 ethnicity-matched neurologically normal individuals with no family history of PD. The study was initiated by investigators Eduardo Tolosa and Dolores Vilas, who are enormously grateful to Dr. Casquero and the "Associació de Malalts of Parkinson of Menorca" for her work on diagnoses and patients' recruitment. Genetic variants found in these individuals were checked against various databases to identify normal variations observed in other populations. While researchers found mutations already associated with PD, they discovered one novel mutation in the ACMSD gene in a single patient with no family history of PD and none of the known PD-related mutations found in other populations. "Our findings suggest that a new mutation in the ACMSD gene could be a risk factor for PD. It could lead to the identification o...