{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:09:53Z","timestamp":1777856993227,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2020,9,18]]},"abstract":"<jats:p>Neuropathies in Myoclonic Epilepsy with Ragged Red Fibers (MERRF) syndrome are frequent but ganglionopathies have never been reported. We retrospectively identified 24 patients with MERRF mutations in the neuromuscular center Nord\/Est\/Ile de France (Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France). Seventeen nerve conduction studies (NCS) were available. Five patients had MERRF syndrome and ganglionopathy, a pure sensory neuropathy. All of them displayed ataxia and mild clinical sensory abnormalities. Ganglionopathies have been reported in mitochondrial diseases but never in MERRF syndrome. We suggest that patients presenting with ganglionopathy, especially if associated with myopathy, lipomatosis or epilepsy, should be screened for MERRF mutations.<\/jats:p>","DOI":"10.3233\/jnd-200513","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T13:39:11Z","timestamp":1591709951000},"page":"419-423","source":"Crossref","is-referenced-by-count":4,"title":["Ganglionopathies Associated with MERRF Syndrome: An Original Report"],"prefix":"10.1177","volume":"7","author":[{"given":"Maud","family":"Michaud","sequence":"first","affiliation":[{"name":"Department of Neurology, Central Hospital, Neuromuscular Reference Center Nord\/Est\/Ile de France, Nancy, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Institute of Myology, Neuromuscular Reference Center Nord\/Est\/Ile de France, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Maisonobe","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology and Neuropathology, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Behin","sequence":"additional","affiliation":[{"name":"Institute of Myology, Neuromuscular Reference Center Nord\/Est\/Ile de France, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benoit","family":"Rucheton","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"L\u00e9onard-Louis","sequence":"additional","affiliation":[{"name":"Institute of Myology, Neuromuscular Reference Center Nord\/Est\/Ile de France, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[{"name":"Institute of Myology, Neuromuscular Reference Center Nord\/Est\/Ile de France, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Reference Center Nord\/Est\/Ile de France, Raymond-Poincar\u00e9 Teaching Hospital, AP-HP, Garches, Paris Saclay University, France."},{"name":"INSERM U1179, END-ICAP Versailles 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