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

Cristiano Schaffer Aguzzoli; Petronilla Battista; Rafi Hadad; Yuri Ferreira Felloni Borges; Lucas Porcello Schilling; Bruce L Miller

doi:10.1080/13554794.2022.2135448

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.

Authors

Cristiano Schaffer Aguzzoli^{1

2}, Petronilla Battista^{1

3}, Rafi Hadad^{1

4}, Yuri Ferreira Felloni Borges^{2

5}, Lucas Porcello Schilling^{2

6}, Bruce L Miller^{1

7}

Affiliations

¹ Global Brain Health Institute, Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, USA.
² Department of Neurology, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
³ Istituti Clinici Scientifici Maugeri IRCCS, Institute of Bari, Pavia, Italy.
⁴ Stroke and cognition institute, Rambam Health Care Campus, Haifa, Israel.
⁵ Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, Division of Neurology, University of Toronto, Toronto, ON, Canada.
⁶ Brain Institute (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
⁷ Department of Neurology, University of California, San Francisco, San Francisco, California, USA.

PMID: 36228146
DOI: 10.1080/13554794.2022.2135448

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.

Keywords: FUS; Fused in sarcoma protein; behavioral variant of frontotemporal dementia; bvFTD.

Publication types

Case Reports

MeSH terms

Adult
Frontotemporal Dementia* / diagnosis
Frontotemporal Dementia* / genetics
Frontotemporal Dementia* / psychology
Frontotemporal Lobar Degeneration* / diagnosis
Frontotemporal Lobar Degeneration* / genetics
Frontotemporal Lobar Degeneration* / metabolism
Humans
Male
Mutation
RNA-Binding Protein FUS / genetics
RNA-Binding Protein FUS / metabolism
Young Adult

Substances

FUS protein, human
RNA-Binding Protein FUS