{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:22Z","timestamp":1787014162358,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"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":["Euro J of Neurology"],"published-print":{"date-parts":[[2026,4]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n Neuralgic amyotrophy (NA) causes acute episodes of neuropathic pain in the upper limbs, followed by weakness and atrophy. NA can be idiopathic (INA) or hereditary (HNA). The\n SEPTIN9<\/jats:italic>\n gene has been linked to HNA. This study aimed to characterize the clinical and prognostic features of patients with\n SEPTIN9<\/jats:italic>\n \u2010related HNA.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This retrospective multicenter study included all adult patients diagnosed with\n SEPTIN9<\/jats:italic>\n \u2010related HNA in France from January 2012\u2013June 2025. INA patients were included as controls.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Twelve patients with\n SEPTIN9<\/jats:italic>\n \u2010related HNA and 25 with INA were included. A family history of NA (75%) and dysmorphic features (50%) were reported exclusively in the\n SEPTIN9<\/jats:italic>\n group. The median age at neurological episode was significantly lower in the\n SEPTIN9<\/jats:italic>\n group (26.0\u2009years) than in the INA group (38.5\u2009years;\n p<\/jats:italic>\n \u2009<\u20090.01). Multiple episodes were more frequent in the\n SEPTIN9<\/jats:italic>\n group (75%) than in the INA group (24%;\n p<\/jats:italic>\n \u2009<\u20090.01). Distal upper\u2010limb nerves were more frequently affected in\n SEPTIN9<\/jats:italic>\n \u2010related HNA episodes than in INA episodes. Sensory symptoms were significantly more frequent in\n SEPTIN9<\/jats:italic>\n \u2010related HNA episodes (57%) than in INA episodes (22%;\n p<\/jats:italic>\n \u2009<\u20090.01). A higher proportion of\n SEPTIN9<\/jats:italic>\n \u2010related HNA patients had a modified Rankin Scale score \u2265\u20092 (42%) compared with INA patients (16%), although this difference did not reach statistical significance (\n p<\/jats:italic>\n \u2009=\u20090.12).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n While not completely sensitive or specific, certain features may prompt clinicians to suspect a\n SEPTIN9<\/jats:italic>\n \u2010related form when assessing a patient with NA: young age, dysmorphic features, a family history of NA, repeated episodes, sensory symptoms, and distal nerve involvement affecting the upper limbs.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ene.70603","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T13:47:06Z","timestamp":1776347226000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical Features and Prognosis of\n \n SEPTIN9<\/i>\n <\/scp>\n \u2010Related Hereditary Neuralgic Amyotrophy"],"prefix":"10.1111","volume":"33","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":"Pathophysiology and Genetics of Neuron and Muscle (PGNM), CNRS UMR 5261, INSERM U1315, Universit\u00e9 Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Quadrio","sequence":"additional","affiliation":[{"name":"Pathophysiology and Genetics of Neuron and Muscle (PGNM), CNRS UMR 5261, INSERM U1315, Universit\u00e9 Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est Lyon France"},{"name":"Unit\u00e9 Fonctionnelle de Neurog\u00e9n\u00e9tique Mol\u00e9culaire, Service de Biochimie et Biologie Mol\u00e9culaire, Hospices Civils de Lyon, Groupement Est Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Fer","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Myologie, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re, Sorbonne Universit\u00e9\u2010Inserm UMRS974 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Monin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon, Groupement Est Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Bohic","sequence":"additional","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 r\u00e9f\u00e9rence SLA et Autres Maladies du Neurone Moteur, H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Gravier\u2010Dumonceau","sequence":"additional","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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vianney","family":"Poinsignon","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique, H\u00f4pital Bic\u00eatre, Assistance Publique 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H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol\u00e8ne","family":"Ronsin","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CH de Villefranche\u2010sur\u2010Sa\u00f4ne Villefranche\u2010sur\u2010Sa\u00f4ne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Peysson","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CH de Villefranche\u2010sur\u2010Sa\u00f4ne Villefranche\u2010sur\u2010Sa\u00f4ne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Lozeron","sequence":"additional","affiliation":[{"name":"Service de Physiologie Clinique\u2010Explorations Fonctionnelles, Centre de Comp\u00e9tences CERAMIC, H\u00f4pital Lariboisi\u00e8re, DMU DREAM, Assistance Publique des H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Bouhour","sequence":"additional","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":"Pathophysiology and Genetics of Neuron and Muscle (PGNM), CNRS UMR 5261, INSERM U1315, Universit\u00e9 Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Corcia","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie, CHRU Bretonneau Centre de r\u00e9f\u00e9rence SLA et Autres Maladies du Neurone Moteur Tours 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