A Case of Presenilin-1 Mutation (M 139 I) Associated with Early-onset Familial Alzheimer`s Disease

Abstract

Presenilin-1 (PS1) is a novel causative gene for early-onset familial Alzheimer`s disease(EOFAD). Mutations in the gene encoding PS1 account for 50 % of EOFAD. The clinical presentation and age of onset of mutations in variable. We describe a novel PS1 mutations believed to be causal for a very early onset of Alzheimer`s disease (AD). Case : A 38-year old woman visited for evaluation of memory impairment. She had experienced memory problem for 1 year. Familiy history revealed that her mother and sister had cognitive decline at her four decades. Her medical and neurologic examinations were normal. Neuropsychological examination revealed moderate verbal and visual memory problem. MMSE was 22 out of 30. Brain MRI showed mild atrophy. Genetic analysis revealed PS1 Mutation, M139I, in the PS-1 gene