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Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature
Author(s) -
Bouillot S.,
MartinNégrier M.L.,
Vital A.,
Ferrer X.,
Lagueny A.,
Vincent D.,
Coquet M.,
Orgogozo J.M.,
Bloch B.,
Vital C.
Publication year - 2002
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2002.02027.x
Subject(s) - pathology , subclinical infection , peripheral neuropathy , axonal degeneration , mitochondrial dna , myelin , mitochondrion , cytoplasm , peripheral , medicine , nerve biopsy , degeneration (medical) , biopsy , schwann cell , mitochondrial disease , biology , genetics , endocrinology , central nervous system , gene , diabetes mellitus
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.