Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease

Gioia Mastromoro, Stefano Gambardella, Enrica Marchionni, Rosa Campopiano, Alice Traversa, Carlo Di Bonaventura, Antonio Pizzuti

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)96-100
Number of pages5
JournalNeurodegenerative Diseases
Issue number2
Publication statusPublished - 2019


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