Vilas Dolores, Fernández-Santiago Rubén, Sanchez Elena, Azcona Luis J, Santos-Montes Meritxell, Casquero Pilar, Argandoña Lucía, Tolosa Eduardo, Paisán-Ruiz Coro
Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.
Department of Neurology, Laboratory of Neurodegenerative Disorders, Hospital Clínic de Barcelona, Barcelona, Spain.
J Parkinsons Dis. 2017;7(3):459-463. doi: 10.3233/JPD-171146.
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.
To describe a case of sporadic PD carrying a novel ACMSD mutation.
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 ACMSD mutation 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 ACMSD alone or in combination with other risk factors might increase the risk of PD.
ACMSD基因的常见遗传变异与帕金森病（PD）风险增加有关，但迄今为止，尚未报道PD临床病例中的ACMSD突变。
描述一例携带新型ACMSD突变的散发性PD病例。
作为一项旨在识别地中海岛屿梅诺卡岛与PD相关潜在致病基因缺陷的基因研究的一部分，最初的62例PD患者采用基于基因panel的测序方法进行突变筛查。
我们报告了一名74岁散发性PD男性患者，其右手出现震颤和动作迟缓。检查发现有中度强直、不对称性运动迟缓及双侧动作性震颤。给予左旋多巴治疗后症状明显改善。两年后，出现疗效减退现象。对该患者的基因研究发现了一种新型ACMSD突变，导致p.Glu298Lys氨基酸改变，这在神经功能正常人群中不存在。
我们的数据表明，不仅ACMSD基因的常见遗传变异，而且该基因单独的罕见变异或与其他风险因素结合，都可能增加PD的风险。
