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

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...

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Bibliographic Details
Published inNeurocase Vol. 28; no. 4; pp. 403 - 409
Main Authors Aguzzoli, Cristiano Schaffer, Battista, Petronilla, Hadad, Rafi, Ferreira Felloni Borges, Yuri, Schilling, Lucas Porcello, Miller, Bruce L
Format Journal Article
LanguageEnglish
Published Oxford Taylor & Francis Ltd 01.08.2022
Subjects
Age
Cognitive ability
Degeneration
Dementia
Dementia disorders
Frontotemporal dementia
FUS gene
Genetic screening
Mutation
Point mutation
Sarcoma
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Summary: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.
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ISSN:1355-4794
1465-3656
1362-4970
DOI:10.1080/13554794.2022.2135448