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).

引用

页码：451 / 453

页数：2

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