Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease
Autor: | Alice Traversa, Gioia Mastromoro, Carlo Di Bonaventura, Enrica Marchionni, Stefano Gambardella, Rosa Campopiano, Antonio Pizzuti |
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Rok vydání: | 2019 |
Předmět: | |
Zdroj: | Neurodegenerative Diseases. 19:96-100 |
ISSN: | 1660-2862 1660-2854 |
Popis: | APP gene mutations causing Alzheimer disease (AD) segregate in an autosomal dominant pattern. We report on a 40-year-old woman with a severe cognitive decline starting at 36 years, while her affected relatives presented symptoms onset in the 6th decade. The proband carried an APP missense variant in homozygous state (NM_000484.4: c.2032G>A; NP_000475.1: p.Asp678Asn; rs63750064) and showed a more severe clinical picture than the other AD relatives, as regards the age of onset and the rate of disease progression. This mutation behaves as a semi-dominant trait. The very rare chance of studying APP mutations in the homozygous state demonstrates they are not always dominant and other segregation models are possible. |
Databáze: | OpenAIRE |
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