SnapShot: Genetics of ALS and FTD
Author(s) -
Rita Guerreiro,
José Brás,
John Hardy
Publication year - 2015
Publication title -
cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 26.304
H-Index - 776
eISSN - 1097-4172
pISSN - 0092-8674
DOI - 10.1016/j.cell.2015.01.052
Subject(s) - amyotrophic lateral sclerosis , frontotemporal dementia , biology , snapshot (computer storage) , c9orf72 , neuroscience , dementia , tardbp , genetics , disease , pathology , medicine , computer science , operating system
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.
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