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额颞叶痴呆-肌萎缩侧索硬化症重叠综合征伴致病性重复扩展:不典型神经精神表现 1 例报告。

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

机构信息

Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.

Nova Scotia Health, Halifax, NS, Canada.

出版信息

J Geriatr Psychiatry Neurol. 2024 Mar;37(2):157-162. doi: 10.1177/08919887231195337. Epub 2023 Aug 7.

DOI:10.1177/08919887231195337
PMID:37548032
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10802081/
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.

摘要

本病例报告描述了一位 42 岁男性的就诊经过,该患者最终被诊断为 FTD-ALS,其病因是基因突变,最初表现出非典型的精神症状。鉴于 FTD-ALS 的初始临床表现可能变化多样,因此诊断颇具挑战性;本病例报告旨在强调诊断评估中的几个关键注意事项,包括基因检测,以便为临床医生提供更及时的诊断,并最终改善患者的治疗效果。

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J Genet Couns. 2024 Jun;33(3):515-527. doi: 10.1002/jgc4.1749. Epub 2023 Jul 10.
2
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