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

Giuseppe Marangi, Bryan J. Traynor

Risultato della ricerca: Contributo in rivistaArticolo in rivista

87 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)75-93
Numero di pagine19
RivistaBrain Research
Volume1607
DOI
Stato di pubblicazionePubblicato - 2015

Keywords

  • Amyotrophic Lateral Sclerosis
  • Amyotrophiclateralsclerosis
  • Developmental Biology
  • GWAS
  • Gene discovery
  • Genetic Predisposition to Disease
  • Genetic Techniques
  • Genetic heterogeneity
  • Humans
  • Molecular Biology
  • Mutation
  • NGS
  • Neurology (clinical)
  • Neuroscience (all)
  • Somatic mosaicism

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