突变阴性的“早发性家族性阿尔茨海默病”：考虑筛查tau基因突变。

Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations.

作者信息

Larner Andrew J

机构信息

Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Liverpool, UK.

出版信息

Alzheimer Dis Assoc Disord. 2008 Apr-Jun;22(2):194-5. doi: 10.1097/WAD.0b013e3181664ea4.

DOI:10.1097/WAD.0b013e3181664ea4

PMID:18525295

Abstract

Mutations in 3 genes are known to be deterministic for early-onset familial Alzheimer disease. The genes are presenilin-1, presenilin-2, and amyloid precursor protein. As these genes prove to be negative in patients with a clinical diagnosis of early-onset familial Alzheimer disease, a search for tau gene mutations may be appropriate, as illustrated by the following case.

摘要

已知3个基因的突变是早发性家族性阿尔茨海默病的决定性因素。这些基因是早老素-1、早老素-2和淀粉样前体蛋白。由于在临床诊断为早发性家族性阿尔茨海默病的患者中这些基因被证明为阴性，如下例所示，寻找tau基因突变可能是合适的。