{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:48:43Z","timestamp":1782103723578,"version":"3.54.5"},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T00:00:00Z","timestamp":1772582400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"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":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>\n                      CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in\n                      <jats:italic>FBLN5<\/jats:italic>\n                      . Symptomatic cranial nerve involvement has never been reported in patients with CMT1H.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Report<\/jats:title>\n                    <jats:p>\n                      We report a 45\u2010year\u2010old woman with a history of long\u2010standing diplopia. On examination, she had bilateral limitation of eye abduction, with double vision in all directions of gaze, particularly horizontally. She was unable to heel\u2010walk, had mild lower limb distal weakness, decreased tendon reflexes with absent Achilles reflexes, reduced distal vibration sense, pes cavus, and hammertoes. A dominant family history was noted. Brain MRI revealed bilateral contrast enhancement and thickening of cranial nerves III through XII. Genetic testing with whole exome sequencing revealed a known, recurring, heterozygous, likely pathogenic missense variant in\n                      <jats:italic>FBLN5<\/jats:italic>\n                      [c.1117C&gt;T; p. (Arg373Cys)], consistent with a diagnosis of CMT1H.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This is the first reported case of\n                      <jats:italic>FBLN5<\/jats:italic>\n                      \u2010related CMT1H with symptomatic cranial nerve involvement, expanding the known phenotypic spectrum of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70115","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:43:58Z","timestamp":1772970238000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cranial Nerve Involvement With Diplopia as Presenting Feature of\n                    <scp>CMT1H<\/scp>\n                    Caused by Recurring\n                    <i>FBLN5<\/i>\n                    Variant"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8980-8377","authenticated-orcid":false,"given":"Georgios","family":"Koutsis","sequence":"first","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoi","family":"Kontogeorgiou","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalampos","family":"Tzempetzis","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Ragazos","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology, School of Medicine, University General Hospital of Athens \u201cAttikon\u201d National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrisoula","family":"Kartanou","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrysoula","family":"Koniari","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Giagkou","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klio","family":"Chatzistefanou","sequence":"additional","affiliation":[{"name":"1st Department of Ophthalmology National and Kapodistrian University of Athens, Strabismus Service, General Hospital of Athens \u201cG. Genimatas\u201d  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Velonakis","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology, School of Medicine, University General Hospital of Athens \u201cAttikon\u201d National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Karadima","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School, National and Kapodistrian Universtiy of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasiliki","family":"Zouvelou","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/lio2.343"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14463"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2017.02.004"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13881"},{"issue":"10","key":"e_1_2_7_6_1","first-page":"1793","article-title":"MR Imaging of the Cauda Equina in Hereditary Motor Sensory Neuropathies: Correlations With Sural Nerve Biopsy","volume":"21","author":"Cellerini M.","year":"2000","journal-title":"American Journal of Neuroradiology"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70115","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.70115","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:20:02Z","timestamp":1782102002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/jns.70115"],"URL":"https:\/\/doi.org\/10.1111\/jns.70115","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"2025-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70115"}}