Koumasopoulos Evangelos, Stanitsa Evangelia, Angelopoulou Efthalia, Koros Christos, Barbarousi Vasiliki, Velonakis Georgios, Michaletou Chrysoula, Alevetsovitis Savvas Konstantinos, Constantinides Vasilios C, Kyrozis Andreas, Stefanis Leonidas, Kroupis Christos, Papageorgiou Sokratis G
First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece.
Research Unit of Radiology-2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Neurocase. 2025 Apr;31(2):70-73. doi: 10.1080/13554794.2024.2446315. Epub 2024 Dec 24.
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.
泛素结合蛋白1（SQSTM1）基因的突变已与额颞叶痴呆（FTD）、肌萎缩侧索硬化症（ALS）、额颞叶痴呆-肌萎缩侧索硬化症（FTD-ALS）相关，并且最近还与进行性核上性麻痹（PSP）、骨Paget病（PDB）、伴有镶边空泡的远端肌病（DMRV）以及儿童神经退行性疾病相关。我们报告一例具有SQSTM1基因杂合突变（c.823_824del(p.Ser275Phefs*17)）的右颞叶变异型额颞叶痴呆（rtvFTD）病例。
