{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:49:23Z","timestamp":1782186563070,"version":"3.54.5"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T00:00:00Z","timestamp":1774742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T00:00:00Z","timestamp":1774742400000},"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":[[2026,6]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background and Aims<\/jats:title>\n \n Pathogenic variants in\n \n NEFL<\/jats:italic>\n <\/jats:styled-content>\n , the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot\u2010Marie\u2010Tooth (\n CMT<\/jats:styled-content>\n ) disease. In this study, we describe the clinical and electrophysiological features of two families with early\u2010onset\n CMT<\/jats:styled-content>\n carrying nonsense variants in the\n \n NEFL<\/jats:italic>\n <\/jats:styled-content>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Clinical, genetic, and electrophysiological data were collected prospectively and systematically analyzed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Five patients from two unrelated families were included. All patients had combined proximal and distal muscle weakness and facial weakness. In two individuals, marked proximal weakness of the upper limbs with preserved proximal strength in the lower limbs was observed, suggesting a non\u2013length\u2010dependent pattern of involvement. Pinprick sensation was preserved in all cases, whereas vibration sense was reduced, mainly distally. Nerve conduction studies demonstrated a demyelinating neuropathy with temporal dispersion in all patients. Whole\u2010exome sequencing of the probands identified two distinct homozygous pathogenic nonsense variants in\n NEFL<\/jats:italic>\n : c.54G>C; p.Tyr18* in proband I\u20101 and c.796G>T; p.Glu266* in proband II\u20101. Sanger sequencing confirmed segregation of the respective variants in affected siblings.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n This study suggests that recessive nonsense variants in\n NEFL<\/jats:italic>\n may cause a non\u2010length\u2010dependent sensory and motor neuropathy with facial involvement and temporal dispersion on nerve conduction studies, mimicking an acquired inflammatory demyelinating neuropathy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jns.70119","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T05:22:18Z","timestamp":1774848138000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic Nonsense Variants in\n NEFL<\/i>\n May Cause a Non\u2010Length\u2010Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8066-8856","authenticated-orcid":false,"given":"Marcus Vin\u00edcius Vieira","family":"da Silva Gomes","sequence":"first","affiliation":[{"name":"Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders University of S\u00e3o Paulo Ribeir\u00e3o Preto S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro Jos\u00e9","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders University of S\u00e3o Paulo Ribeir\u00e3o Preto S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders University of S\u00e3o Paulo Ribeir\u00e3o Preto S\u00e3o Paulo 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