Early psychiatrics symptoms in familial Alzheimer’s disease with presenilin 1 mutation (I83T)

被引：0
|
作者：
Saloua Fray
Nadia Ben Ali
Afef Achouri Rassas
Meriem Kechaou
Nouria Oudiaa
Aroua Cherif
Slim Echebbi
Taieb Messaoud
Samir Belal
机构：
[1] Charles Nicolle Hospital,Research Laboratory LR12SP01, Neurological Department
[2] Children’s Hospital,Biochemistry and Molecular Biology Laboratory
来源：
Journal of Neural Transmission | 2016年 / 123卷
关键词：
Alzheimer’s disease; Presenilin 1 mutation; Psychiatric disorders;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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).
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页码：451 / 453
页数：2
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