Molecular genetics of neurodegenerative diseases.
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.
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Department of Medicine, Duke University Medical Center, Durham, NC 27710.
D016564:Amyloid beta-Protein Precursor / Q000235:genetics / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics; D004247:DNA / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008967:Molecular Biology; D005810:Multigene Family / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics; D009223:Myotonic Dystrophy / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree
D016564:Amyloid beta-Protein Precursor; D009185:Myelin Proteins; D004247:DNA