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

IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY
Marissa A LeBlanc, Amy Gough, Andrea L Rideout, Sarah Dyack, Kathleen Singh, Meagan MacNeil
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引用次数: 0

Abstract

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.

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
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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来源期刊
CiteScore
6.20
自引率
0.00%
发文量
40
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.
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