Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.
J Neurol Neurosurg Psychiatry
; 81(11): 1203-6, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-20587496
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Encéfalo
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Imageamento por Ressonância Magnética
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Doença de Charcot-Marie-Tooth
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Proteínas Mitocondriais
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Proteínas de Membrana
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Ano de publicação:
2010
Tipo de documento:
Article