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Alzheimer Disease
A novel presenilin 1 mutation (Y154N) discovered in early onset AD
December 14th, 2004
A novel mutation in a gene coding for presenilin 1 has been described in a patient displaying symptoms of early onset Alzheimer disease with spastic paraparesis. "Early onset familial Alzheimer's disease with spastic paraparesis (FAD-SP) has been associated with mutations of the presenilin 1 gene (PSEN1)," wrote S. Hattori and colleagues, Tottori University, who "...reported a pedigree of FAD-SP due to a novel missense mutation of PSEN1 (Y154N). "The symptoms of the proband were characterized by presenile dementia in her 40s, which had been preceded by spastic paraparesis in her 30s. The mother of the proband presented with spastic paraparesis in her...
Source: Cancer Weekly (2004-12-14)
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