{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T19:54:01Z","timestamp":1781639641504,"version":"3.54.5"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100012940","name":"Universit\u00e4tsklinikum T\u00fcbingen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012940","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Charcot-Marie-Tooth disease type 4F (CMT4F) is a rare hereditary sensorimotor neuropathy, linked to the periaxin (\n                    <jats:italic>PRX<\/jats:italic>\n                    ) gene. Early onset, pronounced sensory ataxia and comparatively moderate muscular weakness are characteristic hallmarks. We here report a child with corresponding features carrying a pathogenic\n                    <jats:italic>PRX<\/jats:italic>\n                    variant in\n                    <jats:italic>trans<\/jats:italic>\n                    with a very rare variant of uncertain significance in the 5\u2019 untranslated region predicted to interfere with splicing. High-resolution ultrasound depicted an age-related pattern of nerve enlargement and muscle hyperechogenicity resembling other CMT4 subtypes with similar clinical and histopathological characteristics. Based on this differential analysis, we propose these genetic findings to be possibly causative.\n                  <\/jats:p>","DOI":"10.1007\/s10048-026-00891-6","type":"journal-article","created":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T08:53:41Z","timestamp":1772528021000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F"],"prefix":"10.1007","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-2092-8597","authenticated-orcid":false,"given":"Hanna","family":"K\u00fcpper","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara G.","family":"St\u00fchn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Grundmann-Hauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander Maximilian","family":"Grimm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Blankenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Rosewich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,3]]},"reference":[{"issue":"1","key":"891_CR1","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1086\/302980","volume":"67","author":"V Delague","year":"2000","unstructured":"Delague V et al (2000) Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. 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Neuromuscul Disord 21(8):543\u2013550. https:\/\/doi.org\/10.1016\/j.nmd.2011.04.013","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"891_CR6","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1111\/j.1468-1331.2008.02104.x","volume":"15","author":"L Barankova","year":"2008","unstructured":"Barankova L et al (2008) A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT. Eur J Neurol 15(6):548\u2013551. https:\/\/doi.org\/10.1111\/j.1468-1331.2008.02104.x","journal-title":"Eur J Neurol"},{"key":"891_CR7","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.clinph.2022.12.007","volume":"147","author":"R Castoro","year":"2023","unstructured":"Castoro R et al (2023) Arg953* mutation in Periaxin causes CMT4F without nerve hypertrophy on ultrasound imaging: a case report and review of the literature. 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Written informed consent of the family was performed.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"21"}}