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Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
- Authors
- Chung, KW[Chung, K. W.]; Cho, SY[Cho, S. Y.]; Choi, SK[Choi, S. K.]; Kang, SH[Kang, S. H.]; Yoo, JH[Yoo, J. H.]; Hwang, JY[Hwang, J. Y.]; Choi, BO[Choi, B. O.]; Suh, BC[Suh, B. C.]
- Issue Date
- Nov-2010
- Publisher
- B M J PUBLISHING GROUP
- Citation
- JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, v.81, no.11, pp.1203 - 1206
- Indexed
- SCIE
SCOPUS
- Journal Title
- JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Volume
- 81
- Number
- 11
- Start Page
- 1203
- End Page
- 1206
- ISSN
- 0022-3050
- 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.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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