Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a <em>FUS</em> gene mutation

Neurocase

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
Petronilla Battista
Rafi Hadad
Yuri Ferreira Felloni Borges
Lucas Porcello Schilling
Bruce L Miller