意大利南部家族性帕金森病中RAB32基因Ser71Arg突变的鉴定。
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson's disease from Southern Italy.
作者信息
Gagliardi Monica, Procopio Radha, Annesi Grazia, Buonocore Jolanda, Talarico Mariagrazia, Quattrone Aldo, Quattrone Andrea
机构信息
Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Institute for Biomedical Research and Innovation, National Research Council, Cosenza, Italy.
出版信息
NPJ Parkinsons Dis. 2025 Mar 21;11(1):52. doi: 10.1038/s41531-025-00915-2.
We identified the RAB32 c.213 C > G variant in 7/300 unrelated familial PD patients (not found in 300 controls) from Southern Italy, screened by Sanger sequencing. We found a prevalence of 2.33%, higher than that observed in recent international studies (0.0-0.7%), supporting RAB32 gene as a notable cause of familial PD in the Mediterranean area. We first report prodromal PD signs in unaffected mutated family members, suggesting long-term follow-up in RAB32 carriers.
我们通过桑格测序对来自意大利南部的300名无亲缘关系的家族性帕金森病患者进行筛查，在其中7名患者（300名对照中未发现）中鉴定出RAB32基因c.213 C > G变异。我们发现其患病率为2.33%，高于近期国际研究中观察到的患病率（0.0 - 0.7%），这支持RAB32基因是地中海地区家族性帕金森病的一个重要病因。我们首次报告了未受影响的突变家族成员出现帕金森病前驱症状，提示应对RAB32基因携带者进行长期随访。
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