Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139.

Abstract excerpt

Mutations in the presenilin-1 (PS-1) gene are the main cause of autosomal-dominant early onset Alzheimer's disease (EOAD) and show a high penetrance of symptoms. There are more than 100 mutations in the PS-1 gene. Among them are at present four different missense mutations known at position 139 on exon 5. Lack of genotyping in other family members may lead to the suggestion of sporadic cases. We present the case...

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