Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Amyloid beta-Protein Precursor / genetics
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Amyloid beta-Protein Precursor / metabolism
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Charcot-Marie-Tooth Disease / genetics*
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Creutzfeldt-Jakob Syndrome / genetics
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DNA / blood
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Female
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Humans
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Male
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Molecular Biology
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Multigene Family / genetics*
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Myelin Proteins / genetics
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Myotonic Dystrophy / genetics
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Nervous System Diseases / genetics*
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Pedigree
Substances
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Amyloid beta-Protein Precursor
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Myelin Proteins
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DNA