Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation
Neurocase. 2022 Aug;28(4):403-409. doi: 10.1080/13554794.2022.2135448. Epub 2022 Oct 13.
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.
PMID:36228146 | DOI:10.1080/13554794.2022.2135448
Authors
![Cristiano Schaffer Aguzzoli headshot](/sites/default/files/styles/image_1x1_small/public/profile/202101012_GBHI-444%20%281%29.jpg?h=4121c188&itok=A9PHN6KA)
Cristiano Schaffer Aguzzoli, MD
Neurologist
![Petronilla Battista headshot](/sites/default/files/styles/image_1x1_small/public/profile/202101012_GBHI-25.jpg?h=bbe712c3&itok=YDcm9HEe)
Petronilla Battista, PhD
Neuropsychologist
![Rafi Hadad headshot](/sites/default/files/styles/image_1x1_small/public/profile/202101012_GBHI-1.jpg?h=97a6fbd8&itok=rONwe6Cj)
Rafi Hadad, MD
Neurologist
![Bruce Miller](/sites/default/files/styles/image_1x1_small/public/profile/Bruce%20Miller.jpg?h=3334e0bf&itok=3zITuREU)
Bruce Miller, MD
Founding Director, University of California, San Francisco