Peter S Pressman, Danelle J Carter, Eliana Marisa Ramos, Joie Molden, Kaitlin Smith, Francesca Dino, Corey McMillan, David Irwin, Katya Rascovsky, Nupur Ghoshal, Marguerite Knudtson, Rosa Rademakers, Daniel Geschwind, Tania Gendron, Leonard Petrucelli, Hilary Heuer, Bradley F Boeve, Sami Barmada, Adam Boxer, Maria Luisa Gorno Tempini, Howard J Rosen
{"title":"Symptomatic progression of frontotemporal dementia with the <i>TARDBP</i> I383V variant.","authors":"Peter S Pressman, Danelle J Carter, Eliana Marisa Ramos, Joie Molden, Kaitlin Smith, Francesca Dino, Corey McMillan, David Irwin, Katya Rascovsky, Nupur Ghoshal, Marguerite Knudtson, Rosa Rademakers, Daniel Geschwind, Tania Gendron, Leonard Petrucelli, Hilary Heuer, Bradley F Boeve, Sami Barmada, Adam Boxer, Maria Luisa Gorno Tempini, Howard J Rosen","doi":"10.1080/13554794.2024.2354540","DOIUrl":null,"url":null,"abstract":"<p><p>We present a longitudinal description of a man with the <i>TARDBP</i> I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic behavioral variant (sbvFTD). We also present data from a small series of patients with the <i>TARDBP</i> I383V variant who were enrolled in a nationwide FTD research collaboration (ALLFTD). These data support slowly progressive loss of semantic function. While semantic dementia is infrequently considered genetic, the <i>TARDBP</i> I383V variant seems to be an exception. Longitudinal analyses in larger samples are warranted.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"39-47"},"PeriodicalIF":0.6000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670752/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurocase","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13554794.2024.2354540","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/17 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
We present a longitudinal description of a man with the TARDBP I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic behavioral variant (sbvFTD). We also present data from a small series of patients with the TARDBP I383V variant who were enrolled in a nationwide FTD research collaboration (ALLFTD). These data support slowly progressive loss of semantic function. While semantic dementia is infrequently considered genetic, the TARDBP I383V variant seems to be an exception. Longitudinal analyses in larger samples are warranted.
期刊介绍：
Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
