{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T04:22:03Z","timestamp":1747801323696,"version":"3.41.0"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T00:00:00Z","timestamp":1740528000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T00:00:00Z","timestamp":1740528000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"GoMedPrecision","award":["TAEDR-0539180"],"award-info":[{"award-number":["TAEDR-0539180"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>To date, neuromyotonia in the context of an inherited axonal neuropathy has been linked to autosomal recessive mutations in the histidine triad nucleotide binding protein 1 (HINT1) gene. In this study we describe two unrelated male patients with late-onset, predominantly motor, axonal neuropathy with neuromyotonia, who carried an autosomal dominant c.103G\u2009&gt;\u2009A mutation in the myelin protein zero (<jats:italic>MPZ<\/jats:italic>) gene (NM_000530.8:c.103G\u2009&gt;\u2009A, p.Asp35Asn), identified by whole-exome sequence analysis (WES).\u00a0<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case Descriptions<\/jats:title>\n            <jats:p>The first patient presented progressive leg muscle weakness\u00a0and stiffness with difficulty in walking, pain and increased creatine kinase levels,during his fifth decade of life. Electrophysiological examination revealed findings\u00a0of an axonal, length-dependent polyneuropathy with spontaneous activity, mainly\u00a0neuromyotonia. Over the 20-year disease course since the first reported\u00a0symptoms, muscle weakness gradually worsened and he is currently unable to\u00a0walk without assistance. A second male patient, unrelated to the first one,\u00a0showed similar clinical and electrophysiological features of a length-dependent\u00a0axonal neuropathy with neuromyotonia. WES detected the same MPZ missensevariant.\u00a0<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This study suggests a novel entity in the spectrum of Charcot-Marie-Tooth hereditary neuropathies, characterized by autosomal dominant axonal\u00a0neuropathy with neuromyotonia (AD-NMAN).\u00a0\u00a0<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10072-025-08022-z","type":"journal-article","created":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T05:05:36Z","timestamp":1740546336000},"page":"2843-2846","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia"],"prefix":"10.1007","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3354-1279","authenticated-orcid":false,"given":"Kanellos C.","family":"Spiliopoulos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitra","family":"Veltsista","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eirini","family":"Veltsou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentini","family":"Tzimogianni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1518-1791","authenticated-orcid":false,"given":"Go Hun","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JiHye","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoi","family":"Lygerou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9237-4963","authenticated-orcid":false,"given":"Elisabeth","family":"Chroni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,26]]},"reference":[{"issue":"8","key":"8022_CR1","doi-asserted-by":"publisher","first-page":"1830","DOI":"10.1016\/j.clinph.2021.03.053","volume":"132","author":"J Bashford","year":"2021","unstructured":"Bashford J, Chan WK, Coutinho E, Norwood F, Mills K, Shaw CE (2021) Demystifying the spontaneous phenomena of motor hyperexcitability. Clin Neurophysiol 132(8):1830\u20131844. https:\/\/doi.org\/10.1016\/j.clinph.2021.03.053","journal-title":"Clin Neurophysiol"},{"issue":"5","key":"8022_CR2","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1055\/s-0039-1693006","volume":"39","author":"AS Carroll","year":"2019","unstructured":"Carroll AS, Burns J, Nicholson G, Kiernan MC, Vucic S, Neuropathies I (2019) Semin Neurol 39(5):620\u2013639. https:\/\/doi.org\/10.1055\/s-0039-1693006","journal-title":"Semin Neurol"},{"issue":"11","key":"8022_CR3","doi-asserted-by":"publisher","first-page":"2629","DOI":"10.1007\/s00415-019-09453-3","volume":"266","author":"I Callegari","year":"2019","unstructured":"Callegari I, Gemelli C, Geroldi A, Veneri F, Mandich P, D\u2019Antonio M, Pareyson D, Shy ME, Schenone A, Prada V, Grandis M (2019) Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype. J Neurol 266(11):2629\u20132645. https:\/\/doi.org\/10.1007\/s00415-019-09453-3","journal-title":"J Neurol"},{"key":"8022_CR4","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1186\/1756-0500-3-99","volume":"3","author":"GJ Braathen","year":"2010","unstructured":"Braathen GJ, Sand JC, Russell MB (2010) Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-tooth type 2 and D\u00e9j\u00e9rine-Sottas syndrome. BMC Res Notes 3:99. https:\/\/doi.org\/10.1186\/1756-0500-3-99","journal-title":"BMC Res Notes"},{"issue":"3","key":"8022_CR5","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1002\/ana.26518","volume":"93","author":"V Fridman","year":"2023","unstructured":"Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laur\u00e1 M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME (2023) Disease Progression in Charcot-Marie-tooth disease related to MPZ mutations: a longitudinal study. Ann Neurol 93(3):563\u2013576. https:\/\/doi.org\/10.1002\/ana.26518","journal-title":"Ann Neurol"},{"issue":"1","key":"8022_CR6","doi-asserted-by":"publisher","first-page":"e13200","DOI":"10.1111\/bpa.13200","volume":"34","author":"J Bremer","year":"2024","unstructured":"Bremer J, Meinhardt A, Katona I, Senderek J, K\u00e4mmerer-Gassler EK, Roos A, Ferbert A, Schr\u00f6der JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J (2024) Myelin protein zero mutation-related hereditary neuropathies: neuropathological insight from a new nerve biopsy cohort. Brain Pathol 34(1):e13200. https:\/\/doi.org\/10.1111\/bpa.13200","journal-title":"Brain Pathol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-025-08022-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-025-08022-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-025-08022-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T12:44:37Z","timestamp":1747745077000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-025-08022-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,26]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["8022"],"URL":"https:\/\/doi.org\/10.1007\/s10072-025-08022-z","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"type":"print","value":"1590-1874"},{"type":"electronic","value":"1590-3478"}],"subject":[],"published":{"date-parts":[[2025,2,26]]},"assertion":[{"value":"15 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was obtained from the patients.\u00a0","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"None of the authors have potential conflicts of interest to be disclosed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Study approval was obtained by the Research and Ethics Committee of the University Hospital of Patras (no. of approval 8482\/15.03.2024).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}