Familial neurodegenerative diseases and single nucleotide polymorphisms

Michael Slifer, Jeffery M. Vance

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Neurology is a discipline rich in the study of inherited disorders. Most of these studies have focused on diseases in which changes in a single gene are severe enough to cause a disease by themselves. Examples of such changes are mutations in the dystrophin gene that lead to Duchenne muscular dystrophy, or triplet repeat expansions that lead to Huntington disease. However, as well-known as these examples are, they do not reflect the majority of the diseases that the average physician experiences in his or her practice. Most common disorders have important genetic components, but they are not as obvious. Rather, each contributes a smaller amount of risk, and may require environmental interactions to produce symptoms. The elucidation of these genetic elements has the potential to radically change the way all physicians practice medicine in the future. In this chapter we will begin to explore the nature of these genetic changes (complex genetics) and current knowledge of their contribution to several common neurodegenerative disorders.

Original languageEnglish (US)
Title of host publicationNeuroimmune Pharmacology
PublisherSpringer US
Pages463-478
Number of pages16
ISBN (Print)9780387725727
DOIs
StatePublished - Dec 1 2008

Keywords

  • Complex disease
  • Genetic heterogeneity
  • Genomic convergence
  • Haplogroup
  • Haplotype
  • Linkage
  • Linkage disequilibrium
  • Mendelian disease
  • Single nucleotide polymorphism
  • Susceptibility gene

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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