Scholarlink

<p>We identified the <i>RAB32</i> c.213 C &gt; 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 <i>RAB32</i> 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 <i>RAB32</i> carriers.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年3月21日

查看全文
  • Monica Gagliardi,
  • Radha Procopio,
  • Grazia Annesi,
  • Jolanda Buonocore,
  • Mariagrazia Talarico,
  • Aldo Quattrone,
  • Andrea Quattrone

摘要

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.