Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature

J Peripher Nerv Syst. 2002 Dec;7(4):213-20. doi: 10.1046/j.1529-8027.2002.02027.x.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / pathology*
  • Mutation / genetics
  • Nerve Fibers, Myelinated / pathology
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology*