Inherited mitochondrial neuropathies

J Neurol Sci. 2011 May 15;304(1-2):9-16. doi: 10.1016/j.jns.2011.02.012. Epub 2011 Mar 13.


Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the dominant feature or as one of many other manifestations (inherited mitochondrial neuropathy). MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, and axonal/demyelinating neuropathy with external ophthalmoplegia due to POLG1 mutations. MIDs in which polyneuropathy is an inconstant feature among others is the MELAS syndrome, MERRF syndrome, LHON, Mendelian PEO, KSS, Leigh syndrome, MNGIE, SANDO; MIRAS, MEMSA, AHS, MDS (hepato-cerebral form), IOSCA, and ADOA syndrome. In the majority of the cases polyneuropathy presents in a multiplex neuropathy distribution. Nerve conduction studies may reveal either axonal or demyelinated or mixed types of neuropathies. If a hereditary neuropathy is due to mitochondrial dysfunction, the management of these patients is at variance from non-mitochondrial hereditary neuropathies. Patients with mitochondrial hereditary neuropathy need to be carefully investigated for clinical or subclinical involvement of other organs or systems. Supportive treatment with co-factors, antioxidants, alternative energy sources, or lactate lowering agents can be tried. Involvement of other organs may require specific treatment. Mitochondrial neuropathies should be included in the differential diagnosis of hereditary neuropathies.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics*
  • Humans
  • Mitochondria / genetics
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / physiopathology
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / physiopathology
  • Mutation / genetics
  • Polyneuropathies / diagnosis
  • Polyneuropathies / genetics*
  • Polyneuropathies / physiopathology


  • DNA, Mitochondrial