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

Title
Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
Authors
Chung K.W.Suh B.C.Cho S.Y.Choi S.K.Kang S.H.Yoo J.H.Hwang J.Y.Choi B.O.
Ewha Authors
유정현최병옥황지영조선영
SCOPUS Author ID
유정현scopus; 황지영scopus
Issue Date
2010
Journal Title
Journal of Neurology, Neurosurgery and Psychiatry
ISSN
0022-3050JCR Link
Citation
vol. 81, no. 11, pp. 1203 - 1206
Indexed
SCI; SCIE; SCOPUS WOS scopus
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.
DOI
10.1136/jnnp.2009.181669
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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