AUTHOR=Castro Madelyn , Venkateswaran Nisha , Peters Samuel T. , Deyle David R. , Bower Matthew , Koob Michael D. , Boeve Bradley F. , Vossel Keith TITLE=Case Report: Early-Onset Behavioral Variant Frontotemporal Dementia in Patient With Retrotransposed Full-Length Transcript of Matrin-3 Variant 5 JOURNAL=Frontiers in Neurology VOLUME=11 YEAR=2020 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.600468 DOI=10.3389/fneur.2020.600468 ISSN=1664-2295 ABSTRACT=
Frontotemporal dementia (FTD) rarely occurs in individuals under the age of 30, and genetic causes of early-onset FTD are largely unknown. The current report follows a 27 year-old patient with no significant past medical history presenting with two years of progressive changes in behavior, rushed speech, verbal aggression, and social withdrawal. MRI and FDG-PET imaging of the brain revealed changes maximally in the frontal and temporal lobes, which along with the clinical features, are consistent with behavioral variant FTD. Next generation sequencing of a panel of 28 genes associated with dementia and amyotrophic lateral sclerosis (ALS) initially revealed a duplication of exon 15 in