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Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A

Authors
 K.W. Chung  ;  B.C. Suh  ;  M.E. Shy  ;  S.Y. Cho  ;  J.H. Yoo  ;  S.W. Park  ;  H. Moon  ;  K.D. Park  ;  K.G. Choi  ;  S. Kim  ;  S.B. Kim  ;  D.S. Shim  ;  S.M. Kim  ;  I.N. Sunwoo  ;  B.O. Choi 
Citation
 NEUROMUSCULAR DISORDERS, Vol.18(8) : 610-618, 2008 
Journal Title
 NEUROMUSCULAR DISORDERS 
ISSN
 0960-8966 
Issue Date
2008
MeSH
Adipose Tissue/pathology ; Adolescent ; Adult ; Age of Onset ; Aged ; Atrophy ; Charcot-Marie-Tooth Disease/classification* ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology* ; Child ; Child, Preschool ; DNA/genetics ; Edema/pathology ; Female ; Foot/pathology ; Gene Duplication ; Humans ; Lower Extremity/pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle Strength/genetics ; Muscle Strength/physiology ; Muscle, Skeletal/pathology ; Mutation/genetics ; Mutation/physiology
Keywords
Charcot–Marie–Tooth disease ; PMP22 ; Mitofusin 2 ; Magnetic resonance imaging ; Fatty infiltration
Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A) is the more frequent cause of demyelinating CMT, and CMT2A is the most common cause of axonal CMT. We conducted a magnetic resonance imaging (MRI) study on 39 CMT1A and 21 CMT2A patients to compare their neuroimaging patterns and correlate with clinical features. CMT1A patients showed selective fatty infiltration with a preference for anterior and lateral compartment muscles, whereas CMT2A patients showed a preference for superficial posterior compartment muscles. Early-onset CMT2A patients showed more severe leg fatty atrophy than late-onset CMT2A patients. In late-onset CMT2A, soleus muscle was the earliest, and most severely affected than the other leg muscles. Selective involvement of intrinsic foot muscles is a characteristic pattern of minimal CMT1A and CMT2A. Our MRI study demonstrates different patterns of fatty infiltration involving superficial posterior compartment muscles in CMT2A (partial T-type), and peroneal nerve innervated muscles in CMT1A (P-type).
Full Text
http://www.sciencedirect.com/science/article/pii/S0960896608001508
DOI
10.1016/j.nmd.2008.05.012
Appears in Collections:
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
Sunwoo, Il Nam(선우일남)
Shim, Dong Suk(심동석)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/106606
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