TY - JOUR
T1 - Small fibre neuropathy in mitochondrial diseases explored with sudoscan
AU - Luigetti, Marco
AU - Primiano, Guido Alessandro
AU - Cuccagna, Cristina
AU - Bernardo, Daniela
AU - Sauchelli, Donato
AU - Vollono, Catello
AU - Servidei, Serenella
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Mitochondrial diseases Small fibres Peripheral neuropathy Sudoscan MELAS MERRF PEO
KW - Mitochondrial diseases Small fibres Peripheral neuropathy Sudoscan MELAS MERRF PEO
UR - http://hdl.handle.net/10807/122816
U2 - 10.1016/j.clinph.2018.04.755
DO - 10.1016/j.clinph.2018.04.755
M3 - Article
SN - 1388-2457
VL - 129
SP - 1618
EP - 1623
JO - Clinical Neurophysiology
JF - Clinical Neurophysiology
ER -