Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt–Jakob disease in two patients
Corresponding Author
Cécile Delorme
Service de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
These authors contributed equally to this work.
Correspondence
Cécile Delorme, Département de Neurologie, Bâtiment Paul Castaigne, Hôpital Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, Paris 75013, France. Tel : +33142161562; Fax : +33142162474; E-mail: [email protected]
Search for more papers by this authorAntoine Pégat
Service ENMG et de Pathologies Neuromusculaires, Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
These authors contributed equally to this work.
Search for more papers by this authorJulian Theuriet
Service ENMG et de Pathologies Neuromusculaires, Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorJean-Philippe Brandel
Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, AP-HP-Sorbonne Université, Paris, France
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Search for more papers by this authorEmmanuel Roze
Service de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Search for more papers by this authorKarine Viala
Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Search for more papers by this authorJulie Zyss
Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Search for more papers by this authorStéphane Thobois
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorAnthony Fourier
Unité de Diagnostic des Pathologies Dégénératives, Biochimie et Biologie Moléculaire – LBBMS, Centre de Biologie et Pathologie Est Groupement Est, Bron, France
Search for more papers by this authorEmilien Bernard
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorJuliette Svahn
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorChloé Laurencin
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorPaul Jaulent
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorIsabelle Quadrio
Unité de Diagnostic des Pathologies Dégénératives, Biochimie et Biologie Moléculaire – LBBMS, Centre de Biologie et Pathologie Est Groupement Est, Bron, France
Search for more papers by this authorVirginie Desestret
Service de Neurocognition et Neuro-ophtalmologie, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorDavid Meyronet
Service D'Anatomie et de Cytologie Pathologique, Centre de biologie et pathologie Est Groupement Est, Bron, France
Search for more papers by this authorThierry Maisonobe
Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Search for more papers by this authorStéphane Haïk
Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, AP-HP-Sorbonne Université, Paris, France
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Search for more papers by this authorDanielle Seilhean
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Département de Neuropathologie Raymond Escourolle, Hôpital Pitié-Salpêtrière, AP-HP-Sorbonne Université, Paris, France
Search for more papers by this authorCorresponding Author
Cécile Delorme
Service de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
These authors contributed equally to this work.
Correspondence
Cécile Delorme, Département de Neurologie, Bâtiment Paul Castaigne, Hôpital Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, Paris 75013, France. Tel : +33142161562; Fax : +33142162474; E-mail: [email protected]
Search for more papers by this authorAntoine Pégat
Service ENMG et de Pathologies Neuromusculaires, Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
These authors contributed equally to this work.
Search for more papers by this authorJulian Theuriet
Service ENMG et de Pathologies Neuromusculaires, Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorJean-Philippe Brandel
Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, AP-HP-Sorbonne Université, Paris, France
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Search for more papers by this authorEmmanuel Roze
Service de Neurologie, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Search for more papers by this authorKarine Viala
Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Search for more papers by this authorJulie Zyss
Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Search for more papers by this authorStéphane Thobois
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorAnthony Fourier
Unité de Diagnostic des Pathologies Dégénératives, Biochimie et Biologie Moléculaire – LBBMS, Centre de Biologie et Pathologie Est Groupement Est, Bron, France
Search for more papers by this authorEmilien Bernard
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorJuliette Svahn
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorChloé Laurencin
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorPaul Jaulent
Service de Neurologie C, Pathologies du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorIsabelle Quadrio
Unité de Diagnostic des Pathologies Dégénératives, Biochimie et Biologie Moléculaire – LBBMS, Centre de Biologie et Pathologie Est Groupement Est, Bron, France
Search for more papers by this authorVirginie Desestret
Service de Neurocognition et Neuro-ophtalmologie, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France
Search for more papers by this authorDavid Meyronet
Service D'Anatomie et de Cytologie Pathologique, Centre de biologie et pathologie Est Groupement Est, Bron, France
Search for more papers by this authorThierry Maisonobe
Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière AP-HP, Paris, France
Search for more papers by this authorStéphane Haïk
Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, AP-HP-Sorbonne Université, Paris, France
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Search for more papers by this authorDanielle Seilhean
Institut du Cerveau et de la Moelle Épinière, ICM, Sorbonne Université, INSERM, CNRS, Paris, France
Département de Neuropathologie Raymond Escourolle, Hôpital Pitié-Salpêtrière, AP-HP-Sorbonne Université, Paris, France
Search for more papers by this authorAbstract
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.
Conflict of Interest
The authors declare they have no competing interest in relation to this article.
Open Research
Data Availability Statement
All data included in the study is available upon request from the editor.
Supporting Information
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| acn352296-sup-0001-supinfo.pdfPDF document, 4.7 MB |
Figure S1. |
| acn352296-sup-0002-supinfo.docxWord 2007 document , 21.6 KB |
Table S1. |
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