Behavioral variant frontotemporal dementia with pathogenic variant in MAPT presenting as dementia with Lewy body disease.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2025-02-01 Epub Date: 2024-12-10 DOI:10.1080/13554794.2024.2440548

Tianxu Xia, Clara Li, Ayuko Iverson, Jessica Spat-Lemus, Amy Woroch, Georges Naasan

引用次数: 0

Abstract

A 75-year-old Chinese American man presented to behavioral neurology clinic for a second opinion of dementia with Lewy body disease (DLB). The clinical manifestations met the criteria for a probable DLB diagnosis. Yet, in-depth evaluation unveiled clinical history, family history, and neuroimaging evidences that suggested a diagnosis of behavioral variant frontotemporal dementia (FTD). A heterozygous pathogenic variant in the microtubule-associated protein Tau (MAPT) was identified through genetic testing and confirmed the diagnosis of autosomal dominant MAPT-related FTD. This case is the first reported instance of MAPT-related FTD presenting with well-formed visual hallucinations in an elderly Chinese American.

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伴有MAPT致病变异的行为变异性额颞叶痴呆表现为路易体病痴呆。

一名75岁美籍华人男子到行为神经病学诊所就诊，诊断为痴呆合并路易体病（DLB）。临床表现符合可能的DLB诊断标准。然而，深入的评估揭示了临床病史、家族史和神经影像学证据，提示诊断为行为变异性额颞叶痴呆（FTD）。通过基因检测发现微管相关蛋白Tau （MAPT）的杂合致病变异，并确认常染色体显性MAPT相关FTD的诊断。本病例是第一例报道的与mapt相关的FTD，在一位老年华裔美国人中表现为形成良好的视幻觉。

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.