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

Bibliographic Details
Title: Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72 : A Case Report.
Authors: LeBlanc, Marissa A., Gough, Amy, Rideout, Andrea L., Dyack, Sarah, Singh, Kathleen, MacNeil, Meagan
Source: Journal of Geriatric Psychiatry & Neurology; Mar2024, Vol. 37 Issue 2, p157-162, 6p
Subject Terms: SYMPTOMS, GENETIC mutation, GENETIC testing, MEDICAL personnel, CEREBELLUM degeneration, FRONTOTEMPORAL dementia
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. [ABSTRACT FROM AUTHOR]
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Database: Complementary Index
More Details
ISSN:08919887
DOI:10.1177/08919887231195337
Published in:Journal of Geriatric Psychiatry & Neurology
Language:English