Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature.
J Peripher Nerv Syst
; 7(4): 213-20, 2002 Dec.
Article
em En
| MEDLINE
| ID: mdl-12477166
ABSTRACT
Forty-three cases of peripheral neuropathy (PN) have been reported in the literature with a proven mitochondria (mt) DNA mutation, and 21 had a peripheral nerve biopsy (PNB). We studied 8 patients, 1 of whom had severe sensory PN, 3 mild PN, and 4 subclinical PN. Nerve biopsy was performed in every case; all patients showed axonal degeneration and 4 showed features of primary myelin damage. In addition, there were 2 crystalline-like inclusions in the Schwann cell cytoplasm of a patient with MERRF, and 1 in a patient with multiple deletions on the mtDNA. There are 11 cases of PNB in the literature with axonal lesions, 5 with demyelination, and 4 with mixed lesions. One PNB was not modified. A few crystalline-like inclusions were seen in 1 case of MERRF. Such inclusions were first reported in the Schwann cell cytoplasm of unmyelinated fibers in a patient with Refsum disease and were considered to be modified mitochondria. However, their mitochondrial origin remains debatable.
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Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Periférico
/
Doenças Mitocondriais
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article