Document Detail

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.
MedLine Citation:
PMID:  20587496     Owner:  NLM     Status:  MEDLINE    
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.
K W Chung; B C Suh; S Y Cho; S K Choi; S H Kang; J H Yoo; J Y Hwang; B O Choi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-06-28
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  81     ISSN:  1468-330X     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-25     Completed Date:  2010-12-10     Revised Date:  2011-12-19    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  1203-6     Citation Subset:  IM    
Department of Neurology, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong, Yangcheon-ku, Seoul 158-710, Korea.
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MeSH Terms
Age of Onset
Brain / pathology*
Charcot-Marie-Tooth Disease / genetics*,  pathology*
Child, Preschool
Magnetic Resonance Imaging*
Membrane Proteins / genetics*
Middle Aged
Mitochondrial Proteins / genetics*
Nerve Fibers, Myelinated / pathology
Neurons / pathology
Young Adult
Reg. No./Substance:
0/Membrane Proteins; 0/Mitochondrial Proteins; EC 3.6.1.-/MFN2 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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