{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:49:07Z","timestamp":1782186547063,"version":"3.54.5"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T00:00:00Z","timestamp":1780531200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>\n                      Biallelic variants in\n                      <jats:italic>COQ7<\/jats:italic>\n                      have been associated with inherited neuropathy.\n                      <jats:italic>COQ7<\/jats:italic>\n                      encodes a mitochondrial protein directly involved in coenzyme Q10 (CoQ10) biosynthesis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Two unreported and unrelated cases of\n                      <jats:italic>COQ7<\/jats:italic>\n                      \u2010related neuropathy are presented, along with a review of all previously published cases to highlight the key clinical features. The frequency of\n                      <jats:italic>COQ7<\/jats:italic>\n                      variants was assessed in our cohort of distal hereditary motor neuropathy (dHMN) patients with upper motor neuron (UMN) signs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The two patients were compound heterozygous for the\n                      <jats:italic>COQ7<\/jats:italic>\n                      variants c.197T&gt;A, p.(Ile66Asn) and c.478del, p.(Asp160Thrfs*11); the latter has not been reported. Symptoms began in childhood, and both were diagnosed with dHMN based on distal motor weakness predominantly affecting the lower limbs and a pure motor length\u2010dependent axonal neuropathy on electrodiagnostic study. They had pes cavus and brisk reflexes. In the 28 patients identified in the literature, including the two reported herein, the median age at symptom onset was 10\u2009years (IQR [5\u201311]). The predominant neuropathy subtype was dHMN (89%). Foot deformities were observed in 19\/23 patients (83%). Signs of UMN involvement were present in 20\/27 patients (74%). In fibroblasts, CoQ10 levels were low, and 6\u2010demethoxy\u2010CoQ10 (DMQ10) levels were elevated in all tested patients (8\/8, 100%). No other case was identified in 71 patients with dHMN and UMN signs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      <jats:italic>COQ7<\/jats:italic>\n                      \u2010related neuropathy is rare but should be considered in young patients presenting with distal hereditary motor neuropathy, especially when UMN signs are present. Elevated DMQ10 levels and low CoQ10 levels in fibroblasts represent valuable diagnostic biomarkers.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70132","type":"journal-article","created":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:52:54Z","timestamp":1780570374000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>COQ7<\/i>\n                    <\/scp>\n                    \u2010Related Neuropathy: Two New Cases and Review of the Literature"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5694-3759","authenticated-orcid":false,"given":"Julian","family":"Theuriet","sequence":"first","affiliation":[{"name":"Service D'ENMG et de Pathologies Neuromusculaires, Centre de r\u00e9f\u00e9rence Des Maladies Neuromusculaires PACA\u2010R\u00e9union\u2010Rh\u00f4ne\u2010Alpes H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est  Bron France"},{"name":"Centre de Biotechnologie Cellulaire, CBC Biotec Hospices Civils de Lyon, Groupement Est  Bron France"},{"name":"Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315 Universit\u00e9 Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5988-6684","authenticated-orcid":false,"given":"Shams","family":"Ribault","sequence":"additional","affiliation":[{"name":"Centre de Biotechnologie Cellulaire, CBC Biotec Hospices Civils de Lyon, Groupement Est  Bron France"},{"name":"Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315 Universit\u00e9 Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est  Lyon France"},{"name":"Service de M\u00e9decine Physique et de R\u00e9adaptation, H\u00f4pital Henry Gabrielle Hospices Civils de Lyon  Saint\u2010Genis\u2010Laval 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