Inherited neurodegenerative diseases and transgenic models

Brain Pathol. 1996 Oct;6(4):467-80. doi: 10.1111/j.1750-3639.1996.tb00876.x.

Abstract

In recent years, the identification of mutations in specific genes in several inherited neurodegenerative disorders, combined with advances in the field of transgenic methods, has provided neuroscientists and neuropathologists with information and strategies to develop transgenic (Tg) models to study human diseases. These approaches have proved to be extraordinarily useful in modeling familial forms of amyotrophic lateral sclerosis (FALS) and Alzheimer's disease (FAD) and the spectrum of triplet-repeat disorders. Investigations of these models have begun to provide new insights into the roles of disease-specific mutant proteins and the pathogenic mechanisms of disease as well as opportunities to test therapeutic interventions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Amyloid beta-Peptides / genetics
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • Animals
  • Ataxin-1
  • Ataxins
  • Brain / pathology*
  • Chromosomes, Human, Pair 21
  • Humans
  • Mice
  • Mice, Transgenic
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / pathology
  • Superoxide Dismutase / genetics
  • Trinucleotide Repeats

Substances

  • ATXN1 protein, human
  • Amyloid beta-Peptides
  • Ataxin-1
  • Ataxins
  • Atxn1 protein, mouse
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Superoxide Dismutase