Complex genetic disease

Can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?

A. D. Roses, Margaret A Pericak-Vance, A. M. Saunders, D. Schmechel, D. Goldgaber, W. Strittmatter

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalEpilepsia
Volume35
Issue numberSUPPL. 1
StatePublished - Jan 1 1994
Externally publishedYes

Fingerprint

Inborn Genetic Diseases
Epilepsy
Alzheimer Disease
Nervous System Diseases
Genes
Fatal Familial Insomnia
X-Linked Bulbo-Spinal Atrophy
Charcot-Marie-Tooth Disease
Fragile X Syndrome
Myotonic Dystrophy
Creutzfeldt-Jakob Syndrome
Mutation
Genetic Linkage
Apolipoproteins E
Neurology
Biochemistry
Molecular Biology
Research

Keywords

  • Alzheimer's disease
  • Association
  • Charcot-Marie-Tooth disease
  • Creutzfeldt-Jakob disease
  • Dynamic mutations
  • Epilepsy
  • Genetics
  • Linkage
  • Myotonic dystrophy
  • Prion mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

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).

Complex genetic disease : Can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy? / Roses, A. D.; Pericak-Vance, Margaret A; Saunders, A. M.; Schmechel, D.; Goldgaber, D.; Strittmatter, W.

In: Epilepsia, Vol. 35, No. SUPPL. 1, 01.01.1994.

Research output: Contribution to journalArticle

Roses, AD, Pericak-Vance, MA, Saunders, AM, 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, vol. 35, no. SUPPL. 1.
Roses, A. D. ; Pericak-Vance, Margaret A ; Saunders, A. M. ; Schmechel, D. ; Goldgaber, D. ; Strittmatter, W. / Complex genetic disease : Can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?. In: Epilepsia. 1994 ; Vol. 35, No. SUPPL. 1.
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