Molecular genetics of neurodegenerative diseases.


Journal Article (Review)

Recent progress in human neurogenetics has led to the discovery of new modes of inheritance and disease expression, including 1) stably inherited duplications in Charcot-Marie-Tooth disease type 1a, 2) dynamic mutations in fragile X syndrome and myotonic dystrophy, and 3) identical mutations with different phenotypes in fatal familial insomnia and Creutzfeldt-Jakob disease. The mechanisms by which known mutations of the amyloid precursor protein lead to early-onset Alzheimer's disease remain unexplained, despite hundreds of recent studies of beta-amyloid.

Full Text

Cited Authors

  • Roses, AD

Published Date

  • February 1993

Published In

Volume / Issue

  • 6 / 1

Start / End Page

  • 34 - 39

PubMed ID

  • 8428064

Pubmed Central ID

  • 8428064

International Standard Serial Number (ISSN)

  • 0951-7383


  • eng