{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T22:37:36Z","timestamp":1776465456108,"version":"3.51.2"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T00:00:00Z","timestamp":1736640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe peripheral neuropathy associated with familial Creutzfeldt\u2010Jakob disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report two unrelated patients with genetic Creutzfeldt\u2013Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both patients exhibited gait disturbance and paresthesia. Electrodiagnostic studies revealed demyelinating abnormalities with motor conduction blocks suggestive of chronic inflammatory demyelinating polyradiculoneuropathy, with abnormal plexus MRI and elevated CSF protein levels. One of them had <jats:italic>pes cavus<\/jats:italic> and a late\u2010onset Charcot\u2013Marie\u2010Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1\u20132\u2009years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the <jats:italic>PRNP<\/jats:italic> gene. Postmortem neuropathological examinations showed PrP<jats:sup>Sc<\/jats:sup> deposits in the peripheral nervous system, particularly in Schwann cells. <jats:bold>Interpretation<\/jats:bold>: Peripheral neuropathy in E200K genetic forms of Creutzfeldt\u2010Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52296","type":"journal-article","created":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T23:54:11Z","timestamp":1736726051000},"page":"653-658","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Demyelinating neuropathy as the initial presentation of familial <scp>E200K<\/scp> Creutzfeldt\u2013Jakob disease in two patients"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5838-9077","authenticated-orcid":false,"given":"C\u00e9cile","family":"Delorme","sequence":"first","affiliation":[{"name":"Service de Neurologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re AP\u2010HP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1563-9432","authenticated-orcid":false,"given":"Antoine","family":"P\u00e9gat","sequence":"additional","affiliation":[{"name":"Service ENMG et de Pathologies Neuromusculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires PACA\u2010R\u00e9union\u2010Rh\u00f4ne Alpes H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Theuriet","sequence":"additional","affiliation":[{"name":"Service ENMG et de Pathologies Neuromusculaires, Centre de R\u00e9f\u00e9rence des 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