Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.

IF 0.8 4区医学 Q4 CLINICAL NEUROLOGY Neurocase Pub Date : 2025-04-01 Epub Date: 2024-12-24 DOI:10.1080/13554794.2024.2446315

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

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.

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额颞叶痴呆p62/SQSTM1杂合突变与右侧颞叶变异：Α病例报告。

sequestosome 1 （SQSTM1）基因突变与额颞叶痴呆（FTD）、肌萎缩性侧索硬化症（ALS）、额颞叶痴呆-ALS （FTD-ALS）以及最近的进行性核上性麻痹（PSP）、骨paget病（PDB）、边缘空泡远端肌病（DMRV）和儿童神经退行性疾病有关。我们报告一例FTD右颞部变异（rtvFTD）伴杂合突变（c.823_824del(p. 824del)）。Ser275Phefs *17))在SQSTM1基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

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.