V. Delforge , C. Tard , J.-B. Davion , K. Dujardin , A. Wissocq , C.-M. Dhaenens , E. Mutez , V. Huin
{"title":"RFC1：模式和表型。","authors":"V. Delforge , C. Tard , J.-B. Davion , K. Dujardin , A. Wissocq , C.-M. Dhaenens , E. Mutez , V. Huin","doi":"10.1016/j.neurol.2024.03.006","DOIUrl":null,"url":null,"abstract":"<div><p>Biallelic intronic expansions (AAGGG)<sub>exp</sub> in intron 2 of the <em>RFC1</em> gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the <em>RFC1</em> gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the <em>RFC1</em> gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the <em>RFC1</em> gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of <em>RFC1</em> disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in <em>RFC1</em> disease, and research perspectives.</p></div>","PeriodicalId":21321,"journal":{"name":"Revue neurologique","volume":"180 5","pages":"Pages 393-409"},"PeriodicalIF":2.8000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0035378724004843/pdfft?md5=d53d1da228d3727a03bd77a0b5f73c98&pid=1-s2.0-S0035378724004843-main.pdf","citationCount":"0","resultStr":"{\"title\":\"RFC1: Motifs and phenotypes\",\"authors\":\"V. Delforge , C. Tard , J.-B. Davion , K. Dujardin , A. Wissocq , C.-M. Dhaenens , E. Mutez , V. Huin\",\"doi\":\"10.1016/j.neurol.2024.03.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Biallelic intronic expansions (AAGGG)<sub>exp</sub> in intron 2 of the <em>RFC1</em> gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the <em>RFC1</em> gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the <em>RFC1</em> gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the <em>RFC1</em> gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of <em>RFC1</em> disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in <em>RFC1</em> disease, and research perspectives.</p></div>\",\"PeriodicalId\":21321,\"journal\":{\"name\":\"Revue neurologique\",\"volume\":\"180 5\",\"pages\":\"Pages 393-409\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S0035378724004843/pdfft?md5=d53d1da228d3727a03bd77a0b5f73c98&pid=1-s2.0-S0035378724004843-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revue neurologique\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0035378724004843\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revue neurologique","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0035378724004843","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the RFC1 gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of RFC1 disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in RFC1 disease, and research perspectives.
期刊介绍：
The first issue of the Revue Neurologique, featuring an original article by Jean-Martin Charcot, was published on February 28th, 1893. Six years later, the French Society of Neurology (SFN) adopted this journal as its official publication in the year of its foundation, 1899.
The Revue Neurologique was published throughout the 20th century without interruption and is indexed in all international databases (including Current Contents, Pubmed, Scopus). Ten annual issues provide original peer-reviewed clinical and research articles, and review articles giving up-to-date insights in all areas of neurology. The Revue Neurologique also publishes guidelines and recommendations.
The Revue Neurologique publishes original articles, brief reports, general reviews, editorials, and letters to the editor as well as correspondence concerning articles previously published in the journal in the correspondence column.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
