Mandy Radefeldt MSc, Sabrina Lemke, Kridsadakorn Chaichoompu PhD, Jefri Jeya Paul PhD, Filipa Curado PhD, Franco Valzania MD, Francesco Cavallieri MD, PhD, Valentina Fioravanti MD, PhD, Enza Maria Valente MD, Micol Avenali MD, Anna Negrotti MD, Hasmet A. Hanagasi MD, Sven Thonke MD, Michele Matarazzo MD, Andrea Panzavolta MD, Chiara Cerami MD, Ana Westenberger PhD, Christine Klein MD, Peter Bauer MD, Christian Beetz PhD
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{"title":"关于 RAB32 相关帕金森病的遗传学和流行病学见解","authors":"Mandy Radefeldt MSc, Sabrina Lemke, Kridsadakorn Chaichoompu PhD, Jefri Jeya Paul PhD, Filipa Curado PhD, Franco Valzania MD, Francesco Cavallieri MD, PhD, Valentina Fioravanti MD, PhD, Enza Maria Valente MD, Micol Avenali MD, Anna Negrotti MD, Hasmet A. Hanagasi MD, Sven Thonke MD, Michele Matarazzo MD, Andrea Panzavolta MD, Chiara Cerami MD, Ana Westenberger PhD, Christine Klein MD, Peter Bauer MD, Christian Beetz PhD","doi":"10.1002/mds.30041","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).</p>\n </section>\n \n <section>\n \n <h3> Objective</h3>\n \n <p>The aim was to investigate the presence of <i>RAB32</i> variants in a large multiethnic group of individuals affected and unaffected by PD.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg-associated haplotypes were constructed.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD-relevant symptoms. It was found <i>in-cis</i> to a set of proximal single-nucleotide polymorphisms. Additional <i>RAB32</i> variants were comparably frequent in PD and non-PD individuals.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>The RAB32 p.Ser71Arg variant defines a cluster of PD patients in northern Italy. Globally, it is most prevalent in MENA. Our data indicate that p.Ser71Arg causes PD and that it occurred only once, through a founder event. Other <i>RAB32</i> variants are unlikely to cause PD. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\n </section>\n </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":"147-151"},"PeriodicalIF":7.4000,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30041","citationCount":"0","resultStr":"{\"title\":\"Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease\",\"authors\":\"Mandy Radefeldt MSc, Sabrina Lemke, Kridsadakorn Chaichoompu PhD, Jefri Jeya Paul PhD, Filipa Curado PhD, Franco Valzania MD, Francesco Cavallieri MD, PhD, Valentina Fioravanti MD, PhD, Enza Maria Valente MD, Micol Avenali MD, Anna Negrotti MD, Hasmet A. Hanagasi MD, Sven Thonke MD, Michele Matarazzo MD, Andrea Panzavolta MD, Chiara Cerami MD, Ana Westenberger PhD, Christine Klein MD, Peter Bauer MD, Christian Beetz PhD\",\"doi\":\"10.1002/mds.30041\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Objective</h3>\\n \\n <p>The aim was to investigate the presence of <i>RAB32</i> variants in a large multiethnic group of individuals affected and unaffected by PD.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg-associated haplotypes were constructed.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD-relevant symptoms. It was found <i>in-cis</i> to a set of proximal single-nucleotide polymorphisms. Additional <i>RAB32</i> variants were comparably frequent in PD and non-PD individuals.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusions</h3>\\n \\n <p>The RAB32 p.Ser71Arg variant defines a cluster of PD patients in northern Italy. Globally, it is most prevalent in MENA. Our data indicate that p.Ser71Arg causes PD and that it occurred only once, through a founder event. Other <i>RAB32</i> variants are unlikely to cause PD. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\\n </section>\\n </div>\",\"PeriodicalId\":213,\"journal\":{\"name\":\"Movement Disorders\",\"volume\":\"40 1\",\"pages\":\"147-151\"},\"PeriodicalIF\":7.4000,\"publicationDate\":\"2024-10-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30041\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/mds.30041\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/mds.30041","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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