Abstract
The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Axons / pathology*
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Axons / ultrastructure
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Biopsy
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Charcot-Marie-Tooth Disease / diagnosis*
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Charcot-Marie-Tooth Disease / genetics*
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Charcot-Marie-Tooth Disease / pathology
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DNA Mutational Analysis
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Electrodiagnosis
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Female
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Humans
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Male
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Middle Aged
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Mutation
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Nerve Fibers, Myelinated / pathology
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Neurofilament Proteins / genetics*
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Neurofilament Proteins / metabolism*
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Neurofilament Proteins / ultrastructure
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Pedigree
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Sural Nerve / pathology
Substances
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Neurofilament Proteins
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neurofilament protein L