{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T14:23:14Z","timestamp":1769437394156,"version":"3.49.0"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We describe a unique patient who had been diagnosed with inflammatory demyelinating polyneuropathy (CIDP) for 13 years with frequent clear responses to immunotherapies and was finally diagnosed with Charcot-Marie-Tooth disease (CMT) with a rare point mutation in PMP22 (c.320G\u2009&gt;\u2009A, p.G107D). Some patients diagnosed with young-onset CIDP may have underlying CMT, and extensive genetic testing including point mutations of PMP22 gene is required not to miss the diagnosis.<\/jats:p>","DOI":"10.1007\/s10048-025-00808-9","type":"journal-article","created":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T03:07:11Z","timestamp":1742785631000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22"],"prefix":"10.1007","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9678-5660","authenticated-orcid":false,"given":"Honami","family":"Kawai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6158-9355","authenticated-orcid":false,"given":"Yoichiro","family":"Nishida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8919-6377","authenticated-orcid":false,"given":"Takashi","family":"Kanda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6490-3263","authenticated-orcid":false,"given":"Takanori","family":"Yokota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,24]]},"reference":[{"key":"808_CR1","doi-asserted-by":"publisher","first-page":"3419","DOI":"10.3390\/ijms20143419","volume":"20","author":"J Morena","year":"2019","unstructured":"Morena J, Gupta A, Hoyle JC (2019) Charcot-Marie-Tooth: from molecules to Therapy. Int J Mol Sci 20:3419. https:\/\/doi.org\/10.3390\/ijms20143419","journal-title":"Int J Mol Sci"},{"key":"808_CR2","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.4103\/0366-6999.211539","volume":"130","author":"LX Li","year":"2017","unstructured":"Li LX, Dong HL, Xiao BG, Wu ZY (2017) A novel missense mutation in Peripheral myelin Protein-22 causes Charcot-Marie-tooth disease. Chin Med J 130:1779\u20131784. https:\/\/doi.org\/10.4103\/0366-6999.211539","journal-title":"Chin Med J"},{"key":"808_CR3","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1136\/jnnp-2015-310835","volume":"87","author":"YA Rajabally","year":"2016","unstructured":"Rajabally YA, Adams D, Latour P, Attarian S (2016) Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. J Neurol Neurosurg Psychiatry 87:1051\u20131060. https:\/\/doi.org\/10.1136\/jnnp-2015-310835","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"808_CR4","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1111\/jns.12362","volume":"25","author":"M Campagnolo","year":"2020","unstructured":"Campagnolo M, Taioli F, Cacciavillani M et al (2020) Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: pitfalls and red flags. J Peripheral Nerv Syst 25:19\u201326. https:\/\/doi.org\/10.1111\/jns.12362","journal-title":"J Peripheral Nerv Syst"},{"key":"808_CR5","doi-asserted-by":"publisher","first-page":"1422","DOI":"10.1016\/j.jocn.2011.03.003","volume":"18","author":"BR Wakerley","year":"2011","unstructured":"Wakerley BR, Harman FE, Altmann DM, Malik O (2011) Charcot-Marie-tooth disease associated with recurrent optic neuritis. J Clin Neurosci 18:1422\u20131423. https:\/\/doi.org\/10.1016\/j.jocn.2011.03.003","journal-title":"J Clin Neurosci"},{"key":"808_CR6","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.2169\/internalmedicine.6153-20","volume":"60","author":"Y Hamada","year":"2021","unstructured":"Hamada Y, Takahashi K, Kanbayashi T et al (2021) Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a patient with Charcot-Marie-tooth disease type 1A. Intern Med 60:1611\u20131614. https:\/\/doi.org\/10.2169\/internalmedicine.6153-20","journal-title":"Intern Med"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00808-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-025-00808-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00808-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T04:04:41Z","timestamp":1769400281000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-025-00808-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,24]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["808"],"URL":"https:\/\/doi.org\/10.1007\/s10048-025-00808-9","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,24]]},"assertion":[{"value":"18 December 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 February 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 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":"Written informed consent was obtained from the patient.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"37"}}