Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation.
- Resource Type
- Academic Journal
- Authors
- Aguzzoli CS; Global Brain Health Institute, Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, USA.; Department of Neurology, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.; Battista P; Global Brain Health Institute, Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, USA.; Istituti Clinici Scientifici Maugeri IRCCS, Institute of Bari, Pavia, Italy.; Hadad R; Global Brain Health Institute, Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, USA.; Stroke and cognition institute, Rambam Health Care Campus, Haifa, Israel.; Ferreira Felloni Borges Y; Department of Neurology, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.; 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.; Schilling LP; Department of Neurology, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.; Brain Institute (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.; Miller BL; Global Brain Health Institute, Memory and Aging Center, University of California San Francisco (UCSF), San Francisco, USA.; Department of Neurology, University of California, San Francisco, San Francisco, California, USA.
- Source
- Publisher: Routledge Country of Publication: England NLM ID: 9511374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3656 (Electronic) Linking ISSN: 13554794 NLM ISO Abbreviation: Neurocase Subsets: MEDLINE
- Subject
- Language
- English
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.