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Article

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.

Journal of the neurological sciences - 15 May 2008

Lindquist Suzanne Granhøj, Nielsen Jørgen Erik, Stokholm Jette, Schwartz Marianne, Batbayli Mustafa, Ballegaard Martin, Erdal Jesper, Krabbe Katja, Waldemar Gunhild

Abstract excerpt

BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features....

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Source

Identifiers

PMID: 18187157
DOI: 10.1016/j.jns.2007.11.021

Genes

APP
PSEN1
PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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