非常早发行为变异性额颞叶痴呆患者的变异不确定意义的FUS基因突变。

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2022-08-01 Epub Date: 2022-10-13 DOI:10.1080/13554794.2022.2135448

Cristiano Schaffer Aguzzoli, Petronilla Battista, Rafi Hadad, Yuri Ferreira Felloni Borges, Lucas Porcello Schilling, Bruce L Miller

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引用次数: 0

摘要

额颞叶痴呆(bvFTD)的行为变异具有典型的进行性病程，在50至70岁之间表现为认知和行为改变。非常早发且进展迅速的bvFTD是额颞叶变性(FTLD)下的一种罕见综合征，与多种蛋白质沉积和基因突变有关。我们报告了一个24岁的男性病例，他在几个月内出现了行为症状并进展为严重的认知障碍和功能丧失。基因检测鉴定出FUS基因的不确定意义变异(VUS)突变。

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Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation.

The behavioral variant of Frontotemporal dementia (bvFTD) has typically a progressive course with cognitive and behavioral changes that manifests between 50 and 70 years. Very early-onset bvFTD with rapid progression is a rare syndrome under the frontotemporal lobar degeneration (FTLD) umbrella that has been associated with a variety of protein deposition and genetic mutations. We present a case of a 24-year-old man who developed behavioral symptoms and progressed with severe cognitive impairment and functional loss within months. Genetic testing identified a variant of uncertain significance (VUS) mutation in the FUS gene.

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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.