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

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

doi:10.1016/j.nmd.2008.05.012

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

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

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87 Scopus citations

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).

Original language	English
Pages (from-to)	610-618
Number of pages	9
Journal	Neuromuscular Disorders
Volume	18
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2008.05.012
State	Published - Aug 2008

Bibliographical note

Funding Information:
We deeply thanks to the patients with participation of this study. This work was supported by the Brain Korea 21 project, Ministry of Education, the Korea Research Foundation Grant funded by the Korean Government (MOEHRD) (KRF-2007-313-E00397), the Korea Institute of Industrial Technology Evaluation and Planning (Grant No. ITEP-10023399), and the INAM Neuroscience Research Center, Sanbon Medical Center, College of Medicine, Wonkwang University in 2006.

Keywords

Charcot-Marie-Tooth disease
Fatty infiltration
Magnetic resonance imaging
Mitofusin 2
PMP22

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Chung, K. W., Suh, B. C., Shy, M. E., Cho, S. Y., Yoo, J. H., Park, S. W., Moon, H., Park, K. D., Choi, K. G., Kim, S., Kim, S. B., Shim, D. S., Kim, S. M., Sunwoo, I. N., & Choi, B. O. (2008). Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscular Disorders, 18(8), 610-618. https://doi.org/10.1016/j.nmd.2008.05.012

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

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).",

keywords = "Charcot-Marie-Tooth disease, Fatty infiltration, Magnetic resonance imaging, Mitofusin 2, PMP22",

author = "Chung, {K. W.} and Suh, {B. C.} and Shy, {M. E.} and Cho, {S. Y.} and Yoo, {J. H.} and Park, {S. W.} and H. Moon and Park, {K. D.} and Choi, {K. G.} and S. Kim and Kim, {S. B.} and Shim, {D. S.} and Kim, {S. M.} and Sunwoo, {I. N.} and Choi, {B. O.}",

note = "Funding Information: We deeply thanks to the patients with participation of this study. This work was supported by the Brain Korea 21 project, Ministry of Education, the Korea Research Foundation Grant funded by the Korean Government (MOEHRD) (KRF-2007-313-E00397), the Korea Institute of Industrial Technology Evaluation and Planning (Grant No. ITEP-10023399), and the INAM Neuroscience Research Center, Sanbon Medical Center, College of Medicine, Wonkwang University in 2006.",

year = "2008",

month = aug,

doi = "10.1016/j.nmd.2008.05.012",

language = "English",

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T1 - Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A

AU - Chung, K. W.

AU - Suh, B. C.

AU - Shy, M. E.

AU - Cho, S. Y.

AU - Yoo, J. H.

AU - Park, S. W.

AU - Moon, H.

AU - Park, K. D.

AU - Choi, K. G.

AU - Kim, S.

AU - Kim, S. B.

AU - Shim, D. S.

AU - Kim, S. M.

AU - Sunwoo, I. N.

AU - Choi, B. O.

N1 - Funding Information: We deeply thanks to the patients with participation of this study. This work was supported by the Brain Korea 21 project, Ministry of Education, the Korea Research Foundation Grant funded by the Korean Government (MOEHRD) (KRF-2007-313-E00397), the Korea Institute of Industrial Technology Evaluation and Planning (Grant No. ITEP-10023399), and the INAM Neuroscience Research Center, Sanbon Medical Center, College of Medicine, Wonkwang University in 2006.

PY - 2008/8

Y1 - 2008/8

N2 - 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).

AB - 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).

KW - Charcot-Marie-Tooth disease

KW - Fatty infiltration

KW - Magnetic resonance imaging

KW - Mitofusin 2

KW - PMP22

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U2 - 10.1016/j.nmd.2008.05.012

DO - 10.1016/j.nmd.2008.05.012

M3 - Article

C2 - 18602827

AN - SCOPUS:48549088834

SN - 0960-8966

VL - 18

SP - 610

EP - 618

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 8

ER -

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

Abstract

Bibliographical note

Keywords

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