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
Rok vydání:	2019
Předmět:	Genetics Proband Mutation Neurogenetics Biology medicine.disease medicine.disease_cause Neurology medicine Missense mutation Dementia Neurology (clinical) Age of onset Alzheimer's disease Cognitive decline
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
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a96ed4ba3a9ec4f26ee226014d97f4ab https://doi.org/10.1159/000502906 Zobrazit plný text záznamu