Send to

Choose Destination
Neuromuscul Disord. 2016 Apr-May;26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008. Epub 2016 Feb 23.

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.

Author information

Neurological Clinic, University of Pisa, Pisa, Italy. Electronic address:
Neurological Clinic, University of Pisa, Pisa, Italy.
IRCCS S. Camillo, Venice, Italy.
Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Hospital IRCCS, Rome, Italy.
IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, and Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Department of Medicine, Surgery and Neurosciences, University Siena and Unit Clinical Neurology and Neurometabolic Diseases, AOUS, Siena, Italy.
Neuropediatric and Muscle Disorders Unit, University of Genoa and G. Gaslini Institute, Genoa, Italy.
Neuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy; Dino Ferrari Centre, University of Milan, Milan, Italy.
Department of Neuroscience, University of Turin, Torino, Italy.
Neurological Clinic, University of Verona, Verona, Italy.
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Center of Myology and Neurodegenerative Diseases, G Gaslini Institute, Genova, Italy.
Neurological Clinic, University Hospital Spedali Civili, Brescia, Italy.
Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan, Italy.
Child Neurology Unit, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan, Italy.
Neurological Clinic, University of Padova, Padova, Italy.


Involvement of the peripheral nervous system in mitochondrial disorders has been previously reported. However, the prevalence of peripheral neuropathy in mitochondrial disorders is still unclear. Based on the large database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", we reviewed the clinical data of 1200 patients, with special regard to peripheral neuropathy (mean age at onset 24.3 ± 20.1 years; age at last evaluation 39.8 ± 22.3 years; females 52.7%; childhood onset [before age 16 years] 43.1%). Peripheral neuropathy was present in 143/1156 patients (12.4%), being one of the ten most common signs and symptoms. POLG mutations cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy; TYMP mutations lead to a demyelinating sensory-motor polyneuropathy; SURF1 mutations are associated with a demyelinating/mixed sensory-motor polyneuropathy. The only mtDNA mutation consistently associated with peripheral neuropathy (although less severely than in the above-considered nuclear genes) was the m.8993T > G (or the rarer T > C) changes, which lead to an axonal, mainly sensory polyneuropathy. In conclusion, peripheral neuropathy is one of the most common features of a mitochondrial disorder, and may negatively impact on the quality of life of these patients. Furthermore, the presence or absence of peripheral neuropathy, as well as its specific forms and the association with neuropathic pain (indicative of a POLG-associated disease) can guide the molecular analysis.


Disease registry; Mitochondrial myopathies; Neuropathy; Peripheral nerve; mtDNA

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science Icon for Archivio Istituzionale della Ricerca Unimi
Loading ...
Support Center