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Article

Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.

Clinical genetics - 1 Aug 2009

Lindquist S G, Schwartz M, Batbayli M, Waldemar G, Nielsen J E

Abstract excerpt

Autosomal dominantly transmitted Alzheimer's disease (AD) and frontotemporal dementia (FTD) are genetically heterogeneous disorders. To date, three genes have been identified in which mutations cause early-onset autosomal dominant inherited AD: APP, PSEN1, and PSEN2. Mutations in two genes on chromosome 17, the MAPT and the PGRN genes, are associated with autosomal dominant inherited FTD. The aim of this study...

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Source

Identifiers

PMID: 19659892
DOI: 10.1111/j.1399-0004.2009.01191.x

Genes

PSEN2
APP
MAPT
PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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