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

Autor:	LeBlanc MA; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada., Gough A; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada., Rideout AL; IWK Maritime Medical Genetics, Halifax, NS, Canada., Dyack S; Nova Scotia Health, Halifax, NS, Canada.; IWK Maritime Medical Genetics, Halifax, NS, Canada., Singh K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada., MacNeil M; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Nova Scotia Health, Halifax, NS, Canada.
Jazyk:	angličtina
Zdroj:	Journal of geriatric psychiatry and neurology [J Geriatr Psychiatry Neurol] 2024 Mar; Vol. 37 (2), pp. 157-162. Date of Electronic Publication: 2023 Aug 07.
DOI:	10.1177/08919887231195337
Abstrakt:	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. Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Databáze:	MEDLINE
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