Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
M LuigettiS Servidei

Abstract

Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients. To investigate the involvement of the peripheral nervous system in MDs extensive electrophysiological studies were performed in 109 patients with morphological, biochemical and genetic diagnosis of MD [12 A3243G progressive external ophthalmoplegia (PEO)/mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), 16 myoclonic epilepsy with ragged-red fibres (MERRF), four mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), 67 PEO with single or multiple deletions of mitochondrial DNA, 10 others]. A neuropathy was found in 49 patients (45%). The incidence was very high in MNGIE (100%), MELAS (92%) and MERRF (69%), whilst 28% of PEO patients had evidence of peripheral involvement. The most frequent abnormality was a sensory axonal neuropathy found in 32/49 patients (65%). A sensory-motor axonal neuropathy was instead detected in 16% of the patients and sensory-motor axonal demyelinating neuropathy in 16%. Finally one Leigh patient had a motor axonal neuropathy. It is interesting to note that the great majority had preserved ...Continue Reading

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Citations

Apr 12, 2016·International Journal of Cardiology·Josef Finsterer, Sinda Zarrouk-Mahjoub
May 5, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J Finsterer, M Frank
Jul 20, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M LuigettiS Servidei
Mar 6, 2018·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K SamuelssonR Press
Oct 17, 2017·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A H V Schapira
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Jan 15, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Marco LuigettiMario Sabatelli
Sep 29, 2020·Journal of Neuromuscular Diseases·Josef FinstererStefan Iglseder
Jan 19, 2019·Annals of Clinical and Translational Neurology·Maria G OteroTyler Mark Pierson
Jun 17, 2020·Journal of Neuromuscular Diseases·Maud MichaudPascal Laforêt
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Nov 22, 2020·Mitochondrion·Jian-Qiang Lu, Mark A Tarnopolsky

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