由 C9orf72 中的致病性重复扩展引起的 FTD-ALS 的非典型神经精神表现：病例报告

IF 2.9 4区医学 Q2 CLINICAL NEUROLOGY

Journal of Geriatric Psychiatry and Neurology Pub Date : 2024-03-01 Epub Date: 2023-08-07 DOI:10.1177/08919887231195337

Marissa A LeBlanc, Amy Gough, Andrea L Rideout, Sarah Dyack, Kathleen Singh, Meagan MacNeil

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引用次数: 0

摘要

本病例报告描述了一名 42 岁男性的表现，他最终被诊断出患有由基因突变引起的 FTD-ALS，起初表现为非典型精神症状。鉴于 FTD-ALS 最初的临床表现可能千变万化，诊断往往具有挑战性；本病例报告旨在强调诊断评估（包括基因检测）中的几个关键注意事项，以指导临床医生更及时地进行诊断，并最终改善患者护理。

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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Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report.

The case report describes the presentation of a 42-year-old male ultimately diagnosed with FTD-ALS caused by a genetic mutation, who initially presented with atypical psychiatric symptoms. Given that the initial clinical manifestations of FTD-ALS can be quite variable, the diagnosis is often challenging; the case report aims to highlight several key considerations in the diagnostic assessment, including genetic testing in order to guide clinicians in more timely diagnosis and ultimately improve patient care.

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来源期刊

Journal of Geriatric Psychiatry and Neurology 医学-精神病学

CiteScore

6.20

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of Geriatric Psychiatry and Neurology (JGP) brings together original research, clinical reviews, and timely case reports on neuropsychiatric care of aging patients, including age-related biologic, neurologic, and psychiatric illnesses; psychosocial problems; forensic issues; and family care. The journal offers the latest peer-reviewed information on cognitive, mood, anxiety, addictive, and sleep disorders in older patients, as well as tested diagnostic tools and therapies.