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- Title
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.
- Authors
Ataka, Suzuka; Tomiyama, Takami; Takuma, Hiroshi; Yamashita, Takenari; Shimada, Hiroyuki; Tsutada, Tsuyoshi; Kawabata, Koichi; Mori, Hiroshi; Miki, Takami
- Abstract
Early-onset familial Alzheimer disease is caused by mutations in the amyloid precursor protein (APP), presenilin-1 (PSEN1), or presenilin-2 (PSEN2) genes. Phenotypic diversity has been reported to be associated with various mutations in PSEN1. Various mutations of PSEN1 have been reported in cases of early-onset Alzheimer disease with spastic paraparesis.
- Publication
Archives of neurology, 2004, Vol 61, Issue 11, p1773
- ISSN
0003-9942
- Publication type
Journal Article
- DOI
10.1001/archneur.61.11.1773