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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
neuroscience
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease
Neuroscience, Volume 269, Year 2014
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Description
Alzheimer's disease (AD) is a progressive brain disorder that causes gradual and irreversible loss of higher brain functions and is the most common cause of dementia in the elderly, as assessed by autopsy and clinical series. Furthermore, it has an annual incidence of approximately 3% in the 65-74-year-old age group. This incidence rate doubles with every increment of 5. years above the age of 65. In Morocco, AD affects almost 30,000 individuals and this number will possibly increase to 75,000 by 2020 (projections of the World Health Organization (WHO)). Genetically, AD is caused by a mutation in one of at least 3 genes: presenilin 1 (PS1), presenilin 2 (PS2) and the amyloid precursor protein (APP). Most cases are late onset and apparently sporadic, most likely as a result of a combination of environmental and non-dominant genetic factors. In Morocco, the genes predisposing individuals to AD and predicting disease incidence remain elusive. The purpose of the present study was to evaluate the genetic contribution of mutations in PS1 and PS2 genes to familial early-onset AD cases and sporadic late-onset AD cases. 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. Further, we identified 1 novel frameshift mutation in the PS1 gene and 2 novel frameshift mutations in the PS2 gene. Our mutational analysis reports a correlation between clinical symptoms and genetic factors in our cases of Early-Onset Alzheimer's Disease (EOAD). These putative mutations cosegregate with affected family members suggesting a direct mutagenic effect. © 2014 IBRO.
Authors & Co-Authors
El Kadmiri, Nadia
Morocco, Casablanca
Hassan Ii University of Casablanca
Zaid, Nabil
Canada, Montreal
Institut de Cardiologie de Montreal
Zaid, Younes
Canada, Montreal
Institut de Cardiologie de Montreal
Tadevosyan, A.
Canada, Montreal
Institut de Cardiologie de Montreal
Hachem, Ahmed
Canada, Montreal
Institut de Cardiologie de Montreal
Dubé, Marie Pierre
Canada, Montreal
Institut de Cardiologie de Montreal
Hamzi, Khalil
Morocco, Casablanca
Hassan Ii University of Casablanca
El Moutawakil, Bouchra
Morocco, Casablanca
Hassan Ii University of Casablanca
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Slassi, Ilham
Morocco, Casablanca
Hassan Ii University of Casablanca
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Sellama, Nadifi
Morocco, Casablanca
Hassan Ii University of Casablanca
Statistics
Citations: 16
Authors: 10
Affiliations: 3
Identifiers
Doi:
10.1016/j.neuroscience.2014.03.052
ISSN:
03064522
e-ISSN:
18737544
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Mental Health
Study Design
Cohort Study
Study Locations
Morocco