Amyotrophic lateral sclerosis: Genotypes and phenotypes

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Mendelian forms of amyotrophic lateral sclerosis (ALS) account for nearly 10 % of all cases. To date, 19 disease genes, usually but not exclusively inherited with an autosomal dominant pattern, have been reported to be associated with ALS or with atypical motor neuron diseases with or without associated frontotemporal dementia (ALS-FTD). Often, it is possible to draw correlations between distinct ALS-associated mutations and specifi c clinical phenotypes. This information is essential for biologists and clinicians alike, providing at the same time an unparalleled insight into the pathogenesis of the disease and invaluable tools for genetic counseling, diagnosis, and development of preventive strategies and treatments for ALS.

Original languageEnglish
Title of host publicationNeurodegenerative Diseases: Clinical Aspects, Molecular Genetics and Biomarkers
PublisherSpringer-Verlag London Ltd
Pages179-192
Number of pages14
ISBN (Print)9781447163800, 1447163796, 9781447163794
DOIs
Publication statusPublished - Mar 1 2014

Keywords

  • C9ORF72
  • FUS
  • Genetic epidemiology
  • Genotype-phenotype correlation
  • SOD1
  • TARDBP

ASJC Scopus subject areas

  • Medicine(all)

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