A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.

Background: Common genetic variability in the ACMSD gene has been associated with increased risk for Parkinson's disease (PD) but ACMSD mutations in clinical cases of PD have so far not been reported.

Objective: To describe a case of sporadic PD carrying a novel ACMSD mutation.

Methods: As part of a genetic study to identify potential pathogenic gene defects related to PD in the Mediterranean island Menorca, an initial group of 62 PD patients underwent mutational screening using a panel-based sequencing approach.