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KMID : 0860920050070020109
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2005 Volume.7 No. 2 p.109 ~ p.117
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Electrophysiological Characteristics of Charcot-Marie-Tooth Patients with Mutations in Neurofilament Light Chain (NEFL) Gene
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Cho Hyun-Ji
Park Kee-Duk
Suh Bum-Chun
Kim Seung-Min
Sunwoo Il-Nam
Kim Dae-Seong
Choi Byung-Ok
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Abstract
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Objectives: Charcot-Marie-Tooth (CMT) disease is the most common form of hereditary motor and sensory
neuropathy. Several genes were recently identified to cause autosomal dominant CMT2 including
neurofilament light chain(NEFL) gene. NEFL encodes a 62kDa structural protein, which is one of the
most abundant cytoskeletal components of neural cells. CMT with NEFL gene was recently known and
there was controversies about the pathogical and electophysiological changes in this disease. Therefore,
we investigated to find the pathological and electrophysiological characteristics in Korean CMT patients
with NEFL mutation.
Methods: Mutations of the NEFL gene were examed in 125 unrelated Korean families diagnosed as having
CMT disease, and 105 normal individuals. Nerve conduction studies were carried out all study populations.
Results: Three pathogenic mutations (Pro22Arg, Leu334Pro, Glu397Lys) were found in three families
(FC#7, 21, 99), respectively. Electrophyiologically, FC#21 patient represented axonal neuropathy
(CMT2E), and the others showed demyelinating neuropathy (CMT1). In patient with Leu334Pro mutation,
the results of follow-up nerve conduction studies showed very slow disease progress, and pathological
findings displayed small loss of large myelinated fibers.
Conclusion: NEFL mutations cause both demyelinating and axonal neuropathies. Therefore, analysis of
the NEFL gene should not be restricted to pure axonal neuropathy.
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KEYWORD
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Neuropathy, Charcot-Marie-Tooth disease, Neurofilament protein L, Mutation
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