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MFN2 유전자 돌연변이가 발견된 축삭형 charcot-marie-tooth 환자들의 하지 MRI 특성

Other Titles
 Lower Leg MRI Features in Axonal Charcot-Marie-Tooth Patients with MFN2 Mutations 
 서범천  ;  심동석  ;  최병옥  ;  선우일남  ;  김승민  ;  박기덕  ;  황정희  ;  정기화  ;  김성준  ;  김상범  ;  오지영 
 Journal of the Korean Neurological Association, Vol.25(1) : 23-32, 2007 
Journal Title
 Journal of the Korean Neurological Association 
Issue Date
Charcot-Marie-Tooth disease ; Mitofusin 2 ; MRI ; Gene ; Mutation
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
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Suh, Bum Chun(서범천)
Sunwoo, Il Nam(선우일남)
Shim, Dong Suk(심동석)
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