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Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?

Publication ,  Journal Article
Roses, AD; Pericak-Vance, MA; Saunders, AM; Schmechel, D; Goldgaber, D; Strittmatter, W
Published in: Epilepsia
1994

Strategies used in molecular genetics have changed modern neurology. The gene or genes responsible for several major neurologic diseases have now been identified using "reverse" or positional genetics. Unexpected new genetic mechanisms have been discovered in human neurologic diseases, including (a) identical mutations of the prion protein gene in Creutzfeldt-Jakob disease and fatal familial insomnia with the phenotypic expression directed by an accompanying polymorphism; (b) stable duplications of chromosome 17 in Charcot-Marie-Tooth disease (type 1A) that involve many genes, only one of which appears to cause neuropathy; and (c) highly variable, dynamic mutations in myotonic dystrophy, fragile X syndrome, and Kennedy's syndrome that modulate variable expressivity in multiple tissues. There is growing recognition that neurologic diseases are often complex genetic diseases with multifactorial rather than simple modes of inheritance. For example, genetic association/linkage strategies have interacted with biochemistry and immunopathology studies to produce new insights into the disease mechanism of late-onset Alzheimer's disease. The role of apolipoprotein E in late-onset Alzheimer's disease is an example of how new analytical techniques of genetic disease can be applied to dissect multiple genes. Similar research strategies are suggested for the study of epilepsy as a complex disease.

Duke Scholars

Published In

Epilepsia

DOI

ISSN

0013-9580

Publication Date

1994

Volume

35 Suppl 1

Start / End Page

S20 / S28

Location

United States

Related Subject Headings

  • Neurology & Neurosurgery
  • Myotonic Dystrophy
  • Mutation
  • Molecular Biology
  • Humans
  • Genetic Techniques
  • Genetic Diseases, Inborn
  • Gene Frequency
  • Epilepsy
  • Charcot-Marie-Tooth Disease
 

Citation

APA
Chicago
ICMJE
MLA
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Roses, A. D., Pericak-Vance, M. A., Saunders, A. M., Schmechel, D., Goldgaber, D., & Strittmatter, W. (1994). Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy? Epilepsia, 35 Suppl 1, S20–S28. https://doi.org/10.1111/j.1528-1157.1994.tb05925.x
Roses, A. D., M. A. Pericak-Vance, A. M. Saunders, D. Schmechel, D. Goldgaber, and W. Strittmatter. “Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?Epilepsia 35 Suppl 1 (1994): S20–28. https://doi.org/10.1111/j.1528-1157.1994.tb05925.x.
Roses AD, Pericak-Vance MA, Saunders AM, Schmechel D, Goldgaber D, Strittmatter W. Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy? Epilepsia. 1994;35 Suppl 1:S20–8.
Roses, A. D., et al. “Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?Epilepsia, vol. 35 Suppl 1, 1994, pp. S20–28. Pubmed, doi:10.1111/j.1528-1157.1994.tb05925.x.
Roses AD, Pericak-Vance MA, Saunders AM, Schmechel D, Goldgaber D, Strittmatter W. Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy? Epilepsia. 1994;35 Suppl 1:S20–S28.
Journal cover image

Published In

Epilepsia

DOI

ISSN

0013-9580

Publication Date

1994

Volume

35 Suppl 1

Start / End Page

S20 / S28

Location

United States

Related Subject Headings

  • Neurology & Neurosurgery
  • Myotonic Dystrophy
  • Mutation
  • Molecular Biology
  • Humans
  • Genetic Techniques
  • Genetic Diseases, Inborn
  • Gene Frequency
  • Epilepsy
  • Charcot-Marie-Tooth Disease