Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation
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...
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Published in | Neurocase Vol. 28; no. 4; pp. 403 - 409 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Oxford
Taylor & Francis Ltd
01.08.2022
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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. |
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AbstractList | 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. |
Author | Battista, Petronilla Ferreira Felloni Borges, Yuri Schilling, Lucas Porcello Hadad, Rafi Aguzzoli, Cristiano Schaffer Miller, Bruce L |
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SubjectTerms | Age Cognitive ability Degeneration Dementia Dementia disorders Frontotemporal dementia FUS gene Genetic screening Mutation Point mutation Sarcoma |
Title | Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation |
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