意大利南部家族性帕金森病RAB32基因Ser71Arg突变的鉴定

IF 6.7 1区医学 Q1 NEUROSCIENCES

NPJ Parkinson's Disease Pub Date : 2025-03-21 DOI:10.1038/s41531-025-00915-2

Monica Gagliardi, Radha Procopio, Grazia Annesi, Jolanda Buonocore, Mariagrazia Talarico, Aldo Quattrone, Andrea Quattrone

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引用次数: 0

摘要

通过Sanger测序，我们在意大利南部7/300名不相关的家族性PD患者（300名对照组未发现）中发现了RAB32 C .213 C >； G变异。我们发现患病率为2.33%，高于近期国际研究（0.0-0.7%），支持RAB32基因是地中海地区家族性帕金森病的重要病因。我们首先报道了未受影响的突变家庭成员的PD前驱症状，建议对RAB32携带者进行长期随访。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy

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Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy

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.

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来源期刊

NPJ Parkinson's Disease Medicine-Neurology (clinical)

CiteScore

9.80

自引率

5.70%

发文量

156

审稿时长

11 weeks

期刊介绍： npj Parkinson's Disease is a comprehensive open access journal that covers a wide range of research areas related to Parkinson's disease. It publishes original studies in basic science, translational research, and clinical investigations. The journal is dedicated to advancing our understanding of Parkinson's disease by exploring various aspects such as anatomy, etiology, genetics, cellular and molecular physiology, neurophysiology, epidemiology, and therapeutic development. By providing free and immediate access to the scientific and Parkinson's disease community, npj Parkinson's Disease promotes collaboration and knowledge sharing among researchers and healthcare professionals.