Peripheral Neuropathy in Mitochondrial Encephalomyopathies

Chun Che Chu, Chin Chang Huang*, Wang Fang, Nai Shin Chu, Cheng Yoong Pang, Yau Huei Wei

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

43 Scopus citations

Abstract

Seven patients with mitochondrial encephalomyopathies were studied for peripheral neuropathy by clinical, electrophysiological and pathological examinations. The clinical manifestation of neuropathy varied from asymptomatic to mild and moderate sensorimotor symptoms with painful paresthesia. Five patients (2 with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, and 3 with myoclonic epilepsy and ragged-red fibers, MERRF) had clinical symptoms and signs of polyneuropathy associated mainly with decreased amplitudes of the compound muscle or nerve action potentials in an electrophysiological study indicating axonal degeneration. Sural nerve biopsy from 1 MERRF patient, also confirmed an axonal degeneration with reduction of large myelinated fibers. Mitochondrial DNA analysis of the sural nerve from this patient showed a point mutation from A to G transition at the nucleotide position 8344 with 80% mtDNA mutation. The results of this study suggest that peripheral neuropathy is not uncommon in mitochondrial encephalomyopathies and is predominantly due to axonal degeneration.

Original languageEnglish
Pages (from-to)110-115
Number of pages6
JournalEuropean Neurology
Volume37
Issue number2
DOIs
StatePublished - 1997
Externally publishedYes

Keywords

  • Axonal degeneration
  • Mitochondrial encephalomyopathies
  • NCS
  • Periperal neuropathy
  • Sural nerve biopsy

Fingerprint

Dive into the research topics of 'Peripheral Neuropathy in Mitochondrial Encephalomyopathies'. Together they form a unique fingerprint.

Cite this