[Molecular genetics of hereditary neuropathies].

Abstract:

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.

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

Stögbauer F

subject

Has Abstract

pub_date

2001-01-16 00:00:00

pages

156-64

issue

2

eissn

0210-0010

issn

1576-6578

journal_volume

32

pub_type

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  • [Dementia with Lewy bodies. Pure and mixed forms].

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  • [Opsoclonus myoclonus syndrome: how long are we going to go on researching?].

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