Brief ReportNovel PS1 Mutation in a Bavarian Kindred With Familial Alzheimer DiseaseKlünemann, 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.†Author Information From *Universitätsklinik für Psychiatrie, Regensburg, Germany; †Centre for Research in Neurodegenerative Diseases, University of Toronto, and Department of Medicine (Division of Neurology), University Health Network, Toronto, Ontario, Canada; and ‡Institut für Neuropathologie, Ludwig-Maximilians-Universität München, München, Germany. Received for publication March 11, 2004; accepted July 12, 2004. Supported in part by grants from the ReFormB program of the University of Regensburg School of Medicine, Canadian Institutes of Health Research, Howard Hughes Medical Institute, Canadian Genetic Diseases Network, the Alzheimer Society of Ontario, the Alzheimer Society of Canada, and the Alzheimer Forschung Initiative Germany. Reprints: Hans H. Klünemann, MD, University of Regensburg School of Medicine, Department of Psychiatry, Universitätsstr. 84, 93053 Regensburg, Germany (e-mail: Hans.Kluenemann@bkr-regensburg.de). Alzheimer Disease & Associated Disorders: October-November-December 2004 - Volume 18 - Issue 4 - p 256-258 Buy Abstract 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. © 2004 Lippincott Williams & Wilkins, Inc.