Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.

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.
PMID: 31578030 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - October 1, 2019 Category: Neurology Authors: Mastromoro G, Gambardella S, Marchionni E, Campopiano R, Traversa A, Di Bonaventura C, Pizzuti A Tags: Neurodegener Dis Source Type: research