title: Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).
abstract: Several clinical phenotypes were associated with presenilin 1 (PSEN1) mutation in early-onset familial Alzheimer's disease (EOFAD). We report the clinical phenotype of two members of a familial dementia kindred who presented with EOFAD and early psychiatric syndrome as behavioral abnormalities. Sequence analysis of the index patient and his brother's PSEN1 transcript revealed a novel T > C transition in exon 4 which was determined as a missense substitution at position 248 of the coding sequence (cDNA. 248T > C).
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia. fray_saloua@yahoo.fr.
authors.forename: Saloua
authors.initials: S
authors.lastname: Fray
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.
authors.forename: Nadia Ben
authors.initials: NB
authors.lastname: Ali
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.|Biochemistry and Molecular Biology Laboratory, Children's Hospital, Bab Saadoun, 1029, Tunis, Tunisia.
authors.forename: Afef Achouri
authors.initials: AA
authors.lastname: Rassas
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.
authors.forename: Meriem
authors.initials: M
authors.lastname: Kechaou
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.
authors.forename: Nouria
authors.initials: N
authors.lastname: Oudiaa
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.
authors.forename: Aroua
authors.initials: A
authors.lastname: Cherif
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.
authors.forename: Slim
authors.initials: S
authors.lastname: Echebbi
authors.affiliation: Biochemistry and Molecular Biology Laboratory, Children's Hospital, Bab Saadoun, 1029, Tunis, Tunisia.
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
authors.affiliation: Research Laboratory LR12SP01, Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, 1006, Tunis, Tunisia.
authors.forename: Samir
authors.initials: S
authors.lastname: Belal
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D053764:Presenilin-1
keywords: Alzheimer’s disease; Presenilin 1 mutation; Psychiatric disorders