Revista de neurologia · 2001
[Molecular genetics of hereditary neuropathies].
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Stögbauer F
Аннотация
INTRODUCTION: Significant progress in the understanding of the molecular genetics and pathophysiology of inherited neuropathies has been achieved during the last years.
DEVELOPMENT: The causative genetic defects of most of the demyelinating forms are known and different chromosomal loci have been identified for the rarer axonal forms. Mutations in genes encoding the myelin proteins peripheral myelin protein 22, myelin protein zero and connection 32 are associated with hereditary motor and sensory neuropathy type I and II and hereditary neuropathy with liability to pressure palsies. Transgenic animals have been generated allowing new insights in the pathophysiology of the diseases.
CONCLUSION: The understanding of the cellular mechanisms leading to hereditary neuropathies will contribute to the development of effective therapeutic strategies.
DEVELOPMENT: The causative genetic defects of most of the demyelinating forms are known and different chromosomal loci have been identified for the rarer axonal forms. Mutations in genes encoding the myelin proteins peripheral myelin protein 22, myelin protein zero and connection 32 are associated with hereditary motor and sensory neuropathy type I and II and hereditary neuropathy with liability to pressure palsies. Transgenic animals have been generated allowing new insights in the pathophysiology of the diseases.
CONCLUSION: The understanding of the cellular mechanisms leading to hereditary neuropathies will contribute to the development of effective therapeutic strategies.