| Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. | |
| | |
MedLine Citation:
|
PMID: 20587496 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
K W Chung; B C Suh; S Y Cho; S K Choi; S H Kang; J H Yoo; J Y Hwang; B O Choi |
Related Documents
:
|
8413966 - Brain imaging in late-onset gm2 gangliosidosis. 20486466 - Clinical and brain spect scan response to zolpidem in patients after brain damage. 12412616 - Immediate s-100b and neuron-specific enolase plasma measurements for rapid evaluation o... 20392136 - Reductions of thalamic volume and regional shape changes in the vegetative and the mini... 15155406 - Types of anaemic crises in paediatric patients with sickle cell anaemia seen in enugu, ... 230946 - Some unusual complications of myelography and lumbosacral radiculography. |
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 |
Affiliation:
|
Department of Neurology, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong, Yangcheon-ku, Seoul 158-710, Korea. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Age of Onset Brain / pathology* Charcot-Marie-Tooth Disease / genetics*, pathology* Child Child, Preschool Female Humans Magnetic Resonance Imaging* Male Membrane Proteins / genetics* Middle Aged Mitochondrial Proteins / genetics* Nerve Fibers, Myelinated / pathology Neurons / pathology Young Adult |
| Chemical | |
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
Previous Document: Relationship between radiological characteristics and combined 1p and 19q deletion in World Health O...
Next Document: Coping with amyotrophic lateral sclerosis: an integrative view.