Small fibre neuropathy in mitochondrial diseases explored with sudoscan

Marco Luigetti, Guido Primiano, Cristina Cuccagna, Daniela Bernardo, Donato Sauchelli, Catello Vollono, Serenella Servidei

Research output: Contribution to journalArticlepeer-review


Objective: Polyneuropathy in mitochondrial diseases (MDs) is relatively common and widely investigated, but few data are instead reported about small fibres involvement. Methods: In order to investigate the involvement of small fibres in MDs we performed extensive neurophysiological test (nerve conduction studies; sympathetic skin response; sudoscan) in 27 patients with genetic diagnosis of MD (7 m.3243A > G; 4 m.8344A > G; 9 single mtDNA deletion; 7 multiple mtDNA deletions). Results: NCS showed a polyneuropathy in 11/27 cases (41%). The incidence was very high in POLG1 (100%), m.8344A > G (75%) and m.3243A > G (43%), while only 11% of patients with single deletion had evidence of large fibres involvement. Sympathetic skin response was abnormal only in three patients (one progressive external ophthalmoplegia with single mtDNA deletion; one patient with m.3243A > G mutation; one patient with POLG1 mutation). Sudoscan revealed the presence of an autonomic small fibres dysfunction in 9/27 cases (33%), most of them (7/9) carrying a single mtDNA deletion. Sudoscan data were also confirmed in a sub-group of patients by laser evoked potentials study. Considering only patients with single mtDNA deletion 7/9 (78%) showed abnormal results at sudoscan. Conclusions: Small fibre neuropathy is another feature to investigate in mitochondrial diseases and seems specifically associated with the presence of single mtDNA deletion. Significance: The correct identification through specific neurophysiological tests of small fibres involvement in MDs represents another tile in this challenging diagnosis.

Original languageEnglish
Pages (from-to)1618-1623
Number of pages6
JournalClinical Neurophysiology
Issue number8
Publication statusPublished - Aug 1 2018


  • Mitochondrial diseases
  • PEO
  • Peripheral neuropathy
  • Small fibres
  • Sudoscan

ASJC Scopus subject areas

  • Sensory Systems
  • Neurology
  • Clinical Neurology
  • Physiology (medical)


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