Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation.
Neurocase
; 28(4): 403-409, 2022 08.
Article
em En
| MEDLINE
| ID: mdl-36228146
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Degeneração Lobar Frontotemporal
/
Demência Frontotemporal
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article