Refractory epilepsy in PSEN 1 mutation (I83T)

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 wit...

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Bibliographic Details
Published inNeurocase Vol. 26; no. 3; pp. 1 - 170
Main Authors Fray, Saloua, Rassas, Afef, Messaoud, Taieb, Belal, Samir
Format Journal Article
LanguageEnglish
Published England Taylor & Francis Ltd 03.05.2020
Subjects
Alzheimer's disease
Chromosome 14
Cognitive ability
Dementia disorders
Epilepsy
Mutation
Neurodegenerative diseases
Phenotypes
Presenilin 1
genetic
presenilin 1 mutation
Alzheimer disease
refractory epilepsy
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Summary: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?.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:1355-4794
1465-3656
1362-4970
DOI:10.1080/13554794.2020.1747632