SnapShot: Genetics of ALS and FTD

Rita Guerreiro; José Brás; John Hardy

doi:10.1016/j.cell.2015.01.052

SnapShot: Genetics of ALS and FTD

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

Authors

Rita Guerreiro¹, José Brás¹, John Hardy¹

Affiliation

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

PMID: 25679767
DOI: 10.1016/j.cell.2015.01.052

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Amyotrophic Lateral Sclerosis / pathology
Amyotrophic Lateral Sclerosis / physiopathology
Frontotemporal Dementia / genetics*
Frontotemporal Dementia / pathology
Frontotemporal Dementia / physiopathology
Genome-Wide Association Study
Humans
Mutation

Abstract

Publication types

MeSH terms

Grants and funding