Concepedia

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

Lou Grangeon, Kévin Cassinari, Stéphane Rousseau, Bernard Croisile, Maïté Formaglio, Olivier Moreaud, Jean Boutonnât, Nathalie Le Meur, Manuèle Miné, Thibault Coste,

Neurology Genetics · 2021 · 35 citations · 11 references

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Abstract

Increased copy number of <i>APP</i> is sufficient to cause AD and CAA, with likely earlier onset in case of triplication compared with duplication.

References

11

The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease

Guy M. McKhann, David S. Knopman, Howard Chertkow et al. · Alzheimer s & Dementia · 2011 · 18.4K citations · Full text

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux et al. · Nature Genetics · 2005 · 1.2K citations

, , +9

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon et al. · PLoS Medicine · 2017 · 583 citations · Full text

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

Kristel Sleegers, Nathalie Brouwers, Ilse Gijselinck et al. · Brain · 2006 · 404 citations · Full text

, , +19

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism

Adam A. Book, Ilaria Guella, Tara Candido et al. · Frontiers in Neurology · 2018 · 120 citations · Full text