Mutations in the presenilin-1 gene (PSEN1) on chromosome 14 are the most common cause of autosomal dominant Alzheimer's disease (ADAD), which has a broad clinical phenotype, encompassing not only dementia but a variety of other neurological features. We report the case of a 32 years old man with a family history of early onset AD associated with a PSEN1 mutation in the exon 4 (I83T). The proband's, carrying the mutation, present a refractory epilepsy predating cognitive decline. We discuss the physiopathological mechanisms of epilepsy during AD associated with PSEN 1 mutation, the possibility of linking this epilepsy to the mutation?.
Saloua Fray, Afef Rassas, Taieb Messaoud, Samir Belal. Refractory epilepsy in PSEN 1 mutation (I83T). Neurocase. 2020 Jun;26(3):167-170
PMID: 32241222
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