부산대학교 도서관

Common genetic variability in the ACMSDgene has been associated with increased risk for Parkinson’s disease (PD) but ACMSDmutations in clinical cases of PD have so far not been reported. To describe a case of sporadic PD carrying a novel ACMSDmutation. 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. We report a 74-years-old man with sporadic PD who developed tremor in his right hand and slowness. On examination, moderate rigidity, asymmetric bradykinesia, and bilateral action tremor were present. He was started on levodopa with significant improvement. Two years later, he developed wearing off phenomena. The genetic study in the patient identified a novel ACMSDmutation resulting in p.Glu298Lys amino-acid change which was not present in neurologically normal population. Our data suggest that not only common genetic variability but also rare variants in ACMSDalone or in combination with other risk factors might increase the risk of PD.