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MPZ-, GDAP1-, and NEFL-Related Charcot-Marie-Tooth Disease with Diverse Clinical and Electrophysiological Phenotypes

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Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, and electrophysiological findings. Approximately 140 genes have been reported to be associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced differentiation related protein 1 (GDAP1), and neurofilament light-chain polypeptide gene (NEFL) genes have been reported to cause all three types of CMT, which is noteworthy because most CMT-related genes cause a single type of neuropathy (either demyelinating or axonal). In contrast, it remains unclear why these genes cause several types of CMT. CMT is presently incurable; however, ongoing attempts to treat CMT with various drugs and dietary supplements have increased the importance of an exact genetic diagnosis for precision medicine. Therefore, it is important to identify the causative mutations and compare the associated clinical characteristics. Taken together, a comparison of causative mutations and clinical features of patients with MPZ, GDAP1, and NEFL mutations will be the first step in understanding how different types of CMT are caused, and will enable a molecular genetic diagnosis. In this review, we describe the clinical, electrophysiological, and genetic characteristics of MPZ-, GDAP1-, and NEFL-related CMT.

Abstract

Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, and electrophysiological findings. Approximately 140 genes have been reported to be associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced differentiation related protein 1 (GDAP1), and neurofilament light-chain polypeptide gene (NEFL) genes have been reported to cause all three types of CMT, which is noteworthy because most CMT-related genes cause a single type of neuropathy (either demyelinating or axonal). In contrast, it remains unclear why these genes cause several types of CMT. CMT is presently incurable; however, ongoing attempts to treat CMT with various drugs and dietary supplements have increased the importance of an exact genetic diagnosis for precision medicine. Therefore, it is important to identify the causative mutations and compare the associated clinical characteristics. Taken together, a comparison of causative mutations and clinical features of patients with MPZ, GDAP1, and NEFL mutations will be the first step in understanding how different types of CMT are caused, and will enable a molecular genetic diagnosis. In this review, we describe the clinical, electrophysiological, and genetic characteristics of MPZ-, GDAP1-, and NEFL-related CMT.

참고문헌 (45)

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관련 논문AI추천

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations김상범, 김현수, 김혜진, 남수현, 윤영철, 이경석, 정기화, 최병옥, 최유진대한신경과학회 · Journal of Clinical Neurology2021 · 제17권 제1호샤르코-마리-투스병의 새로운 진단 및 치료 전략박진모, 최병옥대한근전도전기진단의학회 · 대한근전도 전기진단의학회지2012 · 제14권 제2호Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication강사윤, 권기한, 권석범, 김광국, 김남희, 김대성, 김범생, 김상범, 김승민, 김승현, 김영화, 김옥준, 김우경, 김현숙, 박기덕, 박재현, 박찬익, 서범천, 손은희, 신종휴, 오지영, 이광우, 이동국, 임정근, 정기화, 정화경, 조정희, 주인수, 최경규, 최병옥, 최영철, 선우일남대한신경과학회 · Journal of Clinical Neurology2012 · 제8권 제2호한국인 Charcot-Marie-Tooth 환자에서 Myelin Protein Zero (MPZ) 유전자 돌연변이 분석-임상 및 전기생리학적 특성-김승민, 박기덕, 이광수, 정기화, 조현지, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2005 · 제23권 제2호만성염증탈수초다발신경병과 유사한 전기진단검사 결과를 보인 새로운 p.Arg98Leu MPZ 유전자돌연변이를 가진 CMT1B 환자강희경, 김선영, 김수영, 손은희, 이인영, 이학인, 조나단대한신경과학회 · 대한신경과학회지2022 · 제40권 제3호한국인 유전성 말초신경병 환자들의 원인 유전자별 빈도박진모, 정기화, 최병옥, 홍영빈대한근전도전기진단의학회 · 대한근전도 전기진단의학회지2013 · 제15권 제1호

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