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J Neurol Neurosurg Psychiatry. 2010 Nov;81(11):1203-6. doi: 10.1136/jnnp.2009.181669. Epub 2010 Jun 28.

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.

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Department of Neurology, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong, Yangcheon-ku, Seoul 158-710, Korea.


Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). A prospective brain MRI study was performed on 18 early-onset CMT patients with MFN2 mutations, and a high frequency (39%) of brain abnormalities was found. Early-onset patients showed multiple scattered or confluent brain lesions that involved gray matter as well as white matter. Patterns of brain involvement in early-onset patients differed from those of late-onset patients and other hereditary peripheral neuropathies. In addition, one CMT patient demonstrated a brain lesion before the development of peripheral neuropathy.

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