Evangelos Koumasopoulos, Evangelia Stanitsa, Efthalia Angelopoulou, Christos Koros, Vasiliki Barbarousi, Georgios Velonakis, Chrysoula Michaletou, Savvas Konstantinos Alevetsovitis, Vasilios C Constantinides, Andreas Kyrozis, Leonidas Stefanis, Christos Kroupis, Sokratis G Papageorgiou
{"title":"Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.","authors":"Evangelos Koumasopoulos, Evangelia Stanitsa, Efthalia Angelopoulou, Christos Koros, Vasiliki Barbarousi, Georgios Velonakis, Chrysoula Michaletou, Savvas Konstantinos Alevetsovitis, Vasilios C Constantinides, Andreas Kyrozis, Leonidas Stefanis, Christos Kroupis, Sokratis G Papageorgiou","doi":"10.1080/13554794.2024.2446315","DOIUrl":null,"url":null,"abstract":"<p><p>Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.Ser275Phefs *17)) in SQSTM1 gene.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-4"},"PeriodicalIF":0.6000,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurocase","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13554794.2024.2446315","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.Ser275Phefs *17)) in SQSTM1 gene.
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.