ArticleCase reports in neurology
ABCA7 Mutation in Behavioral Variant of Frontotemporal Dementia: A Case Report.
Article in Case reports in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 authors.
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Abstract
Introduction: Frontotemporal lobar degeneration (FTLD), a major cause of early-onset dementia, includes a heterogeneous group of neurodegenerative disorders with a strong genetic component. Mutations in Case Presentation: We report the case of a 42-year-old woman who presented with progressive behavioral changes and executive dysfunction, consistent with a bvFTD. A whole-exome sequencing was conducted in a family trio, revealing a heterozygous nonsense variant in the Conclusion: This case highlights support the hypothesis of an ABCA7 loss-of-function associated with early-onset bvFTD. It contributes to expand the genetic spectrum of frontotemporal dementia and underscores the importance of broad genetic testing.
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