快照：肌萎缩侧索硬化症和额颞叶痴呆的遗传学。

SnapShot: Genetics of ALS and FTD.

机构信息

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 1PJ, UK.

出版信息

Cell. 2015 Feb 12;160(4):798-798.e1. doi: 10.1016/j.cell.2015.01.052.

DOI:10.1016/j.cell.2015.01.052

PMID:25679767

Abstract

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a spectrum. Clinically, FTD patients present with dementia frequently characterized by behavioral and speech problems. ALS patients exhibit alterations of voluntary movements caused by degeneration of motor neurons. Both syndromes can be present within the same family or even in the same person. The genetic findings for both diseases also support the existence of a continuum, with mutations in the same genes being found in patients with FTD, ALS, or FTD/ALS.

摘要

额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）被认为是一个谱系的一部分。临床上，FTD 患者常表现为痴呆，伴有行为和言语问题。ALS 患者表现为运动神经元变性引起的随意运动改变。这两种综合征可以在同一个家族中出现，甚至在同一个人身上出现。这两种疾病的遗传发现也支持存在一个连续统，在 FTD、ALS 或 FTD/ALS 患者中发现了相同基因的突变。