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

Giuseppe Marangi, Bryan J. Traynor

Research output: Contribution to journalArticlepeer-review

87 Citations (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.
Original languageEnglish
Pages (from-to)N/A-N/A
Number of pages19
JournalBrain Research
DOIs
Publication statusPublished - 2014

Keywords

  • Amyotrophic lateral sclerosis
  • GWAS
  • Gene discovery
  • Genetic heterogeneity
  • NGS
  • Somatic mosaicism

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