A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
作者： Sayoko Hattori , Kenji Sakuma , Yosuke Wakutani , Kenji Wada , Masaru Shimoda
DOI: 10.1016/J.NEULET.2004.07.057
关键词: Alzheimer's disease 、 Degenerative disease 、 Presenilin 、 Pediatrics 、 Physical therapy 、 Medicine 、 Missense mutation 、 Dementia 、 Early-onset Alzheimer's disease 、 PSEN1 、 Proband
摘要: Early onset familial Alzheimer's disease with spastic paraparesis (FAD-SP) has been associated mutations of the presenilin 1 gene (PSEN1). We report a pedigree FAD-SP due to novel missense mutation PSEN1 (Y154N). The symptoms proband were characterized by presenile dementia in her 40s, preceded 30s, whereas mother presented followed mid 60s. was found only proband, and not normal family member, Japanese control subjects, patients sporadic or without dementia. Thus, Y154N is responsible for origin.
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