Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.
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).
Chung
K W
KW
Department of Biological Science, Kongju National University, Gongju, Republic of Korea.
Suh
B C
BC
Shy
M E
ME
Cho
S Y
SY
Yoo
J H
JH
Park
S W
SW
Moon
H
H
Park
K D
KD
Choi
K G
KG
Kim
S
S
Kim
S B
SB
Shim
D S
DS
Kim
S M
SM
Sunwoo
I N
IN
Choi
B O
BO
D000273:Adipose Tissue / Q000473:pathology; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001284:Atrophy; D002607:Charcot-Marie-Tooth Disease / Q000145:classification* / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004487:Edema / Q000473:pathology; D005260:Female; D005528:Foot / Q000473:pathology; D020440:Gene Duplication; D006801:Humans; D035002:Lower Extremity / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000235:genetics / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics / Q000502:physiology
D004247:DNA