Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

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 Res

journal_title

Brain research

authors

Marangi G,Traynor BJ

doi

10.1016/j.brainres.2014.10.009

subject

Has Abstract

pub_date

2015-05-14 00:00:00

pages

75-93

eissn

0006-8993

issn

1872-6240

pii

S0006-8993(14)01361-4

journal_volume

1607

pub_type

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