Marco Luigetti1, Guido Primiano2, Cristina Cuccagna2, Daniela Bernardo2, Donato Sauchelli2, Catello Vollono2, Serenella Servidei2. 1. UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. Electronic address: mluigetti@gmail.com. 2. UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
Abstract
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.
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.
Authors: Simone Bellavia; Irene Scala; Marco Luigetti; Valerio Brunetti; Maurizio Gabrielli; Lorenzo Zileri Dal Verme; Serenella Servidei; Paolo Calabresi; Giovanni Frisullo; Giacomo Della Marca Journal: J Clin Med Date: 2021-12-14 Impact factor: 4.241