학술논문
Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation.
Document Type
Case Study
Author
Source
Subject
*FRONTOTEMPORAL dementia
*GENETIC mutation
*DEMENTIA patients
*GENETIC testing
*COGNITION disorders
*FRONTOTEMPORAL lobar degeneration
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Language
ISSN
1355-4794
Abstract
The behavioral variant of Frontotemporal dementia (bvFTD) has typically a progressive course with cognitive and behavioral changes that manifests between 50 and 70 years. Very early-onset bvFTD with rapid progression is a rare syndrome under the frontotemporal lobar degeneration (FTLD) umbrella that has been associated with a variety of protein deposition and genetic mutations. We present a case of a 24-year-old man who developed behavioral symptoms and progressed with severe cognitive impairment and functional loss within months. Genetic testing identified a variant of uncertain significance (VUS) mutation in the FUS gene. [ABSTRACT FROM AUTHOR]