title: Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature.
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.
authors.affiliation: Neuropathology, Victor Segalen University, Bordeaux, France.
authors.forename: S
authors.initials: S
authors.lastname: Bouillot
authors.forename: M L
authors.initials: ML
authors.lastname: Martin-Négrier
authors.forename: A
authors.initials: A
authors.lastname: Vital
authors.forename: X
authors.initials: X
authors.lastname: Ferrer
authors.forename: A
authors.initials: A
authors.lastname: Lagueny
authors.forename: D
authors.initials: D
authors.lastname: Vincent
authors.forename: M
authors.initials: M
authors.lastname: Coquet
authors.forename: J M
authors.initials: JM
authors.lastname: Orgogozo
authors.forename: B
authors.initials: B
authors.lastname: Bloch
authors.forename: C
authors.initials: C
authors.lastname: Vita
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology*