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  • Title: Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies.
    Author: Bennett CL, Chance PF.
    Journal: Curr Opin Neurol; 2001 Oct; 14(5):621-7. PubMed ID: 11562574.
    Abstract:
    The hereditary motor, sensory and autonomic neuropathies are a heterogeneous group of neurological diseases. The classification of such is presently in a state of change. The original classification system was based on clinical findings whose limitations are being unfurled with increasing insights into the molecular basis of these disorders. In particular, much progress has been achieved in understanding the demyelinating forms of Charcot-Marie-Tooth (type 1), for which at least a dozen loci have been delineated and six genes identified. As anticipated, these genes play predominant roles in myelin biology. Four separate loci for the axonal Charcot-Marie-Tooth neuropathies (type 2) have been identified and only now are researchers beginning to tease out the responsible genes and the underlying molecular mechanisms. Similarly, progress is being made with the pure hereditary motor neuropathies. This review presents an updated list of genes responsible for inherited peripheral neuropathies and explores the underlying molecular mechanisms actively being investigated.
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