Abstract:
:The genetic architecture of amyotrophic lateral sclerosis (ALS) is being increasingly understood. In this far-reaching review, we examine what is currently known about ALS genetics and how these genes were initially identified. We also discuss the various types of mutations that might underlie this fatal neurodegenerative condition and outline some of the strategies that might be useful in untangling them. These include expansions of short repeat sequences, common and low-frequency genetic variations, de novo mutations, epigenetic changes, somatic mutations, epistasis, oligogenic and polygenic hypotheses. This article is part of a Special Issue entitled ALS complex pathogenesis.
journal_name
Brain Resjournal_title
Brain researchauthors
Marangi G,Traynor BJdoi
10.1016/j.brainres.2014.10.009subject
Has Abstractpub_date
2015-05-14 00:00:00pages
75-93eissn
0006-8993issn
1872-6240pii
S0006-8993(14)01361-4journal_volume
1607pub_type
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