Cécile Delorme, Antoine Pégat, Julian Theuriet, Jean-Philippe Brandel, Emmanuel Roze, Karine Viala, Julie Zyss, Stéphane Thobois, Anthony Fourier, Emilien Bernard, Juliette Svahn, Chloé Laurencin, Paul Jaulent, Christophe Vandendries, Isabelle Quadrio, Virginie Desestret, David Meyronet, Thierry Maisonobe, Stéphane Haïk, Danielle Seilhean
{"title":"脱髓鞘神经病变作为家族性E200K克雅氏病两例患者的初始表现","authors":"Cécile Delorme, Antoine Pégat, Julian Theuriet, Jean-Philippe Brandel, Emmanuel Roze, Karine Viala, Julie Zyss, Stéphane Thobois, Anthony Fourier, Emilien Bernard, Juliette Svahn, Chloé Laurencin, Paul Jaulent, Christophe Vandendries, Isabelle Quadrio, Virginie Desestret, David Meyronet, Thierry Maisonobe, Stéphane Haïk, Danielle Seilhean","doi":"10.1002/acn3.52296","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.</p><p><strong>Methods: </strong>We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.</p><p><strong>Results: </strong>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 pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the PRNP gene. Postmortem neuropathological examinations showed PrP<sup>Sc</sup> deposits in the peripheral nervous system, particularly in Schwann cells.</p><p><strong>Interpretation: </strong>Peripheral neuropathy in E200K genetic forms of Creutzfeldt-Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4000,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.\",\"authors\":\"Cécile Delorme, Antoine Pégat, Julian Theuriet, Jean-Philippe Brandel, Emmanuel Roze, Karine Viala, Julie Zyss, Stéphane Thobois, Anthony Fourier, Emilien Bernard, Juliette Svahn, Chloé Laurencin, Paul Jaulent, Christophe Vandendries, Isabelle Quadrio, Virginie Desestret, David Meyronet, Thierry Maisonobe, Stéphane Haïk, Danielle Seilhean\",\"doi\":\"10.1002/acn3.52296\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.</p><p><strong>Methods: </strong>We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.</p><p><strong>Results: </strong>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 pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the PRNP gene. Postmortem neuropathological examinations showed PrP<sup>Sc</sup> deposits in the peripheral nervous system, particularly in Schwann cells.</p><p><strong>Interpretation: </strong>Peripheral neuropathy in E200K genetic forms of Creutzfeldt-Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.</p>\",\"PeriodicalId\":126,\"journal\":{\"name\":\"Annals of Clinical and Translational Neurology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.4000,\"publicationDate\":\"2025-01-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Clinical and Translational Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/acn3.52296\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Clinical and Translational Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/acn3.52296","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: 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 pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 years after the onset of peripheral symptoms. Both patients had a heterozygous E200K mutation in the PRNP gene. Postmortem neuropathological examinations showed PrPSc deposits in the peripheral nervous system, particularly in Schwann cells.
Interpretation: Peripheral neuropathy in E200K genetic forms of Creutzfeldt-Jakob disease can be inaugural and mimic chronic inflammatory demyelinating polyradiculoneuropathy.
期刊介绍：
Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.
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