NR AKEG
AU Roses,A.D.
TI Molecular genetics of neurodegenerative diseases
QU Current Opinion in Neurology and Neurosurgery 1993 Feb; 6(1): 34-9
PT journal article; review; review, tutorial
AB 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.
ZR 41
MH Amyloid beta-Protein Precursor/genetics/metabolism; Charcot-Marie-Tooth Disease/*genetics; Chromosome Aberrations/genetics; Chromosome Disorders; Creutzfeldt-Jakob Syndrome/genetics; DNA/blood; Female; Human; Male; Molecular Biology; Multigene Family/*genetics; Myelin Proteins/genetics; Myotonic Dystrophy/genetics; Nervous System Diseases/*genetics; Pedigree; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.
AD Department of Medicine, Duke University Medical Center, Durham, NC 27710.
SP englisch
PO USA