Abstract
Inherited neuropathies are common and are usually caused by mutations in genes that are expressed by myelinating Schwann cells or neurons, which is the biological basis for long-standing distinction between primary demyelinating and axonal neuropathies. Neuropathies can be isolated, the primary manifestation of a more complex syndrome, or overshadowed by other aspects of the inherited disease. Increasing knowledge of the molecular-genetic causes of inherited neuropathies facilitates faster, more accurate diagnosis, and sets the stage for development of specific therapeutic interventions.
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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DNA Mutational Analysis*
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Demyelinating Diseases / classification
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Demyelinating Diseases / diagnosis
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Demyelinating Diseases / genetics*
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Genetic Markers / genetics*
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Hereditary Sensory and Motor Neuropathy / classification
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Hereditary Sensory and Motor Neuropathy / diagnosis
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Hereditary Sensory and Motor Neuropathy / genetics*
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Humans
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Molecular Diagnostic Techniques*
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Phenotype*
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Retrograde Degeneration / classification
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Retrograde Degeneration / diagnosis
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Retrograde Degeneration / genetics*