Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations
A Lleó, O Berezovska, JH Growdon… - The American journal of …, 2004 - Elsevier
Three genes have been implicated in the etiology of early-onset autosomal-dominant
Alzheimer disease (AD): the amyloid precursor protein, the presenilin-1, and presenilin-2
genes. Approximately half of autosomal-dominant AD cases are associated with mutations
in the presenilin-1 (PS-1) gene on the long arm of Chromosome 14. Marked allelic
heterogeneity characterizes families with PS-1 gene mutations; more than 100 different
mutations have been found in independent families thus far. With the exception of age at …
Alzheimer disease (AD): the amyloid precursor protein, the presenilin-1, and presenilin-2
genes. Approximately half of autosomal-dominant AD cases are associated with mutations
in the presenilin-1 (PS-1) gene on the long arm of Chromosome 14. Marked allelic
heterogeneity characterizes families with PS-1 gene mutations; more than 100 different
mutations have been found in independent families thus far. With the exception of age at …