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

K. W. Chung, B. C. Suh, S. Y. Cho, S. K. Choi, S. H. Kang, J. H. Yoo, J. Y. Hwang, Byung Ok Choi

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28 Scopus citations

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 languageEnglish
Pages (from-to)1203-1206
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume81
Issue number11
DOIs
StatePublished - Nov 2010

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