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Article

Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.

Alzheimer disease and associated disorders - 1 Jan 2000

Klünemann Hans H, Rogaeva Ekaterina, Neumann Manuela, Kretzschmar Hans A, Kandel Michael, Toulina Anna, Sato Christine, Salehi-Rad Shabnam, Pfister Karin, Klein Helmfried E, St George-Hyslop Peter H

Abstract excerpt

We describe a novel Leu174Arg PS1 mutation in two members of a Bavarian family which were initially diagnosed with frontotemporal dementia. Intriguingly, there is the possibility that there is an 18th century founder effect and that this family is related to original kindreds with familial Alzheimer disease described in the early 20th century.

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PMID: 15592140

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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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