染色体易位t(18;21)(q23;q22.1)表明肌萎缩侧索硬化伴额颞叶痴呆存在新的易感基因座。

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.

作者信息

Prudlo Johannes, Alber Burkhard, Kalscheuer Vera M, Roemer Klaus, Martin Thomas, Dullinger Joern, Sittinger Helmut, Niemann Stephan, Heutink Peter, Ludolph Albert C, Ropers Hilger H, Zang Klaus, Meyer Thomas

机构信息

Department of Neurology, University Hospital, Homburg/Saar, Germany.

出版信息

Ann Neurol. 2004 Jan;55(1):134-8. doi: 10.1002/ana.10822.

DOI:10.1002/ana.10822

PMID:14705124

Abstract

A chromosomal translocation t(18;21)(q23;q22) is reported in a patient with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We exclude the physical involvement and silencing of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1) on chromosome 21q22.1. The breakpoints are assigned to sequences flanked by the markers ATA1H06, D18S462, D21S1915, and D21S1898. These critical regions may contain susceptibility loci for FTD associated with ALS.

摘要

一名患有额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）的患者被报道存在染色体易位t(18;21)(q23;q22)。我们排除了位于21号染色体q22.1上与ALS相关的铜/锌超氧化物歧化酶（SOD1）基因的物理参与和沉默。断点被定位到由标记ATA1H06、D18S462、D21S1915和D21S1898侧翼的序列。这些关键区域可能包含与ALS相关的FTD的易感基因座。