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

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:

• Fused in sarcoma protein
• FUS
• behavioral variant of frontotemporal dementia
• bvFTD

Acknowledgements

We are extremely grateful to the patient’s mother and stepfather for their exceptional care and patience, and for their support and approval for presenting this case in detail.

We are grateful for Professor Jennifer Yokoyama’s (University of California San Francisco, Memory and Aging Center) insightful genetic expertise contribution, and for Dr. Marina Scop Medeiros (Department of Neurology, Pontifical Catholic University of Rio Grande do Sul) contributions to this manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The data that support the findings of this study are available from the corresponding author, CSA, upon reasonable request.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.