Novel PSI mutation in a Bavarian kindred with familial Alzheimer disease

Kluenemann, Hans H. and Rogaeva, E. and Neumann, M. and Kretzschmar, H. A. and Kandel, Michael and Toulina, A. and Sato, C. and Salehi-Rad, S. and Pfister, Karin and Klein, Helmfried E. and St George-Hyslop, P. H. (2004) Novel PSI mutation in a Bavarian kindred with familial Alzheimer disease. ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 18 (4). pp. 256-258. ISSN 0893-0341,

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Abstract

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

Item Type: Article
Uncontrolled Keywords: PRESENILIN-1 MUTATION; DEMENTIA; dementia; Alzheimer; PSI; presenilin; fronto-ternporal dementia
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Psychiatrie und Psychotherapie
Depositing User: Dr. Gernot Deinzer
Date Deposited: 28 Jun 2021 04:51
Last Modified: 28 Jun 2021 04:51
URI: https://pred.uni-regensburg.de/id/eprint/37091

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