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).
Bibliographical noteFunding 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.
- Charcot-Marie-Tooth disease
- Fatty infiltration
- Magnetic resonance imaging
- Mitofusin 2