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- W2980754438 abstract "Frontotemporal dementia (FTD) rarely occurs in individuals under the age of 30. We present a case study of early-onset FTD in a patient with a novel genetic mutation in Matrin 3 (MATR3). A 28 year-old woman with no significant past medical history presented with two years of progressive changes in behavior. She developed rushed speech, verbal aggression, and social withdrawal. She was hospitalized after a physical altercation with an 8 year-old girl. Family history was notable for dementia in her paternal grandmother, with onset in her 60’s. On exam, she exhibited pressured and disorganized speech, odd behaviors, and made repetitive waving movements with her hands. Comprehensive blood and cerebrospinal fluid studies were unremarkable. EEG showed diffuse delta-theta slowing. Brain MRI showed bilateral frontal and anterior temporal atrophy. FDG-PET revealed hypometabolism of bilateral frontal lobes consistent with a diagnosis of FTD. She had poor response to antipsychotic medications and other neuroactive drugs and electroconvulsive therapy. Next-generation sequencing of 28 genes associated with FTD and amyotrophic lateral sclerosis (ALS) identified a duplication of exon 15 of the MATR3 gene. Targeted genetic analysis of parental samples indicated that the exon 15 duplication was present in a clinically unaffected parent. Presence of an exon 15 duplication in MATR3 in the affected patient, as well as healthy parent, suggest that the mutation is either a benign variant or disease-causing mutation with incomplete penetrance. The majority of reported pathogenic mutations in MATR3 associated with ALS and FTD-ALS are missense mutations. Loss-of-function and/or gain-of-function mechanisms involving MATR3 are possible. Whole genome and RNA sequencing of the patient's and parental samples will clarify the functional significance of the exon 15 duplication in MATR3." @default.
- W2980754438 created "2019-10-25" @default.
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- W2980754438 date "2019-07-01" @default.
- W2980754438 modified "2023-09-28" @default.
- W2980754438 title "P4-484: EARLY-ONSET FRONTOTEMPORAL DEMENTIA IN A PATIENT WITH DUPLICATION OF EXON 15 OF THE MATR3 GENE" @default.
- W2980754438 doi "https://doi.org/10.1016/j.jalz.2019.08.030" @default.
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