Neurofilament Light Chain (NEFL) 유전자 돌연변이 CMT 환자들의 전기생리학적 특성
Electrophysiological Characteristics of Charcot-Marie-Tooth Patients with Mutations in Neurofilament Light Chain (NEFL) Gene
조현지, 박기덕, 서범천, 김승민, 선우일남, 김대성, 최병옥,
소속 상세정보
조현지 ( Cho Hyun-Ji )
이화여자대학교 의과대학 신경과학교실
박기덕 ( Park Kee-Duk )
이화여자대학교 의과대학 신경과학교실
서범천 ( Suh Bum-Chun )
연세대학교 의과대학 신경과학교실
김승민 ( Kim Seung-Min )
연세대학교 의과대학 신경과학교실
선우일남 ( Sunwoo Il-Nam )
연세대학교 의과대학 신경과학교실
김대성 ( Kim Dae-Seong )
부산대학교 의과대학 부산대학교병원 신경과
최병옥 ( Choi Byung-Ok )
이화여자대학교 의과대학 신경과학교실
KMID : 0860920050070020109
Abstract
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.
키워드
Neuropathy;Charcot-Marie-Tooth disease;Neurofilament protein L;Mutation
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