Abstract
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.
Original language | English |
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Pages (from-to) | 1203-1206 |
Number of pages | 4 |
Journal | Journal of Neurology, Neurosurgery and Psychiatry |
Volume | 81 |
Issue number | 11 |
DOIs | |
State | Published - Nov 2010 |