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Abstract

Introduction: In Morocco, Alzheimer disease (AD) has emerged as a serious public concern with the number of people suffering from AD expected to increase as the elderly population continues to grow. Genes predisposing individuals to AD and predicting disease incidence remain elusive and prevent health care professionals from identifying AD in its early stages, with the goal of slowing down the progression. Aim: The purpose of the present study is to: evaluate the genetic contribution of mutations in the presenilin-1 (PS1) and presenilin-2 (PS2) genes to familial early-onset AD cases and sporadic late-onset AD cases. Methods: Seventeen sporadic late-onset AD cases and eight familial early-onset AD cases were seen at the memory clinic of the University of Casablanca Neurology Department. These patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging and laboratory tests. Direct sequencing of each exon in PS1 and PS2 genes was performed on genomic DNA of AD patients. Results: 1 Novel frameshift mutation was identified in the PS1 gene and 2 novel frameshift mutations in the PS2 gene. Conclusion: Our mutational analysis report a correlation between clinical symptoms and genetic factors in our cases of Early Onset Alzheimer�s Disease (EOAD) involving the frameshift presenilin mutations and suggesting that these mutations increase the risk for developing neurodegenerative diseases.

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