| MFN2 유전자 돌연변이가 발견된 축삭형 Charcot-Marie-Tooth 환자들의 하지 MRI 특성 |
| 서범천, 심동석 오지영a 김상범b 김성준c 정기화d 황정희d 박기덕e 김승민 선우일남 최병옥e |
| 연세대학교 의과대학 신경과학교실, 건국대학교 의과대학 신경과학교실a, 경희대학교 동서신의학병원 신경과b, 한양대학교 의과대학 진단방사선과학교실c, 공주대학교 생명과학과d, 이화여자대학교 의과대학 신경과학교실e |
| Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations |
| Bum Chun Suh |
| Department of Neurology, Yonsei University College of Medicine, Seoul;
Department of Neurology, Konkuk University College of Medicinea, Seoul;
Department of Neurology, Kyung Hee University East-West Neo Medical Centerb, Seoul;
Department of Diagnostic Radiology, Hanyang University, College of Medicinec, Kuri;
Department of Biological Science, Kongju National Universityd, Gongju;
Department of Neurology, Ewha Womans University College of Medicinee, Seoul, Korea |
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| Abstract |
Background: Mutations in mitofusin2 (MFN2) are a major underlying cause of axonal Charcot-Marie-Tooth neuropathy (CMT). It has been reported that patients with an early age of onset (<10 years, EO) show more severe clinical phenotypes than those of patients with a later age at onset (≥10 years, LO) in CMT2A with MFN2 mutations. There are few studies about CMT patients with MRI studies and we performed leg MRIs for better understanding of CMT2A.
Methods: We identified 19 patients (EO=10; LO=9) with MFN2 mutations. We used functional disability scales and CMT neuropathy scales for the grading of disability. Nerve conduction studies and MRIs of the lower leg were performed in all patients.
Results: We confirmed that EO had more severe leg muscle involvement than LO by leg MRI. In 7 out of 9 in LO, there were some degree of asymmetric leg muscle weakness and MRI findings explained the nature of asymmetry, that is, asymmetric cross-sectional areas or fatty infiltration. MRI of EO showed marked fatty infiltration on all three compartments whereas that of LO showed rather selective involvement of the posterior compartment. These results were well correlated with clinical findings that in LO, five patients could not do toe walking whereas only one could not do heel walking.
Conclusions: MRI of the leg may be a useful tool for evaluating axonal CMT neuropathy, and asymmetric leg muscle weakness may be the characteristics of an axonal CMT. In addition, more prominent involvement of the posterior leg in LO is a very interesting phenomenon, which is in contrast to the length-dependent involvement in congenital demyelinating neuropathy. KeyWords:Charcot-Marie-Tooth disease, Mitofusin 2, MRI, Gene, Mutation |
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