{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:18:42Z","timestamp":1789532322429,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T00:00:00Z","timestamp":1454025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Peripheral neuropathy in mitochondrial diseases (<jats:styled-content style=\"fixed-case\">MD<\/jats:styled-content>s) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To investigate the involvement of the peripheral nervous system in <jats:styled-content style=\"fixed-case\">MD<\/jats:styled-content>s extensive electrophysiological studies were performed in 109 patients with morphological, biochemical and genetic diagnosis of <jats:styled-content style=\"fixed-case\">MD<\/jats:styled-content> [12 A3243G progressive external ophthalmoplegia (<jats:styled-content style=\"fixed-case\">PEO<\/jats:styled-content>)\/mitochondrial encephalomyopathy, lactic acidosis and stroke\u2010like episodes (<jats:styled-content style=\"fixed-case\">MELAS<\/jats:styled-content>), 16 myoclonic epilepsy with ragged\u2010red fibres (<jats:styled-content style=\"fixed-case\">MERRF<\/jats:styled-content>), four mitochondrial neurogastrointestinal encephalomyopathy (<jats:styled-content style=\"fixed-case\">MNGIE<\/jats:styled-content>), 67 <jats:styled-content style=\"fixed-case\">PEO<\/jats:styled-content> with single or multiple deletions of mitochondrial <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>, 10 others].<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A neuropathy was found in 49 patients (45%). The incidence was very high in <jats:styled-content style=\"fixed-case\">MNGIE<\/jats:styled-content> (100%), <jats:styled-content style=\"fixed-case\">MELAS<\/jats:styled-content> (92%) and <jats:styled-content style=\"fixed-case\">MERRF<\/jats:styled-content> (69%), whilst 28% of <jats:styled-content style=\"fixed-case\">PEO<\/jats:styled-content> patients had evidence of peripheral involvement. The most frequent abnormality was a sensory axonal neuropathy found in 32\/49 patients (65%). A sensory\u2010motor axonal neuropathy was instead detected in 16% of the patients and sensory\u2010motor 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 tendon reflexes and no sensory disturbances.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In conclusion, peripheral involvement in MD is frequent even if often mild or asymptomatic. 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