{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T04:44:46Z","timestamp":1776573886789,"version":"3.51.2"},"reference-count":31,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>(1) Background: Creutzfeldt\u2013Jakob disease (CJD) is a progressive neurodegenerative disorder, characterized by cognitive decline, and motor and psychiatric symptoms; it primarily affects the central nervous system; however, peripheral nervous system involvement has rarely been described, particularly as an atypical presentation. (2) Methods: A 78-year-old Caucasian man, a retired farmer with no family history of neurological disease, presented with diarrhea followed by progressive lower limb weakness, which eventually evolved into encephalopathy and generalized areflexia. An initial diagnosis of inflammatory neuropathy was considered; the diagnostic assessment included blood and cerebrospinal fluid testing, a CT whole body scan, brain MRI, neuropsychological testing, electroencephalography, a nerve conduction study and electromyography. (3) Results: Neurophysiological studies demonstrated an acute asymmetrical sensorimotor, predominantly axonal polyneuropathy, initially suggestive of an axonal form of inflammatory polyradiculoneuritis. This pattern was confirmed on follow-up neurophysiological assessment performed three weeks later. Unexpectedly, the diagnostic course ultimately led to a diagnosis of sporadic Creutzfeldt\u2013Jakob disease, confirmed by post-mortem neuropathological examination. Based on these findings, we conducted a literature review to summarize the current evidence on CJD-related neuropathy. (4) Conclusions: Our case emphasizes the importance of maintaining clinical suspicion for CJD even in patients presenting with progressive lower limb weakness and suggests that peripheral neuropathy may be concomitant or even precede the CNS manifestations. Careful consideration is required to avoid misdiagnosis of inflammatory neuropathy in the context of neurodegenerative diseases such as CJD.<\/jats:p>","DOI":"10.3390\/life16040684","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T10:11:04Z","timestamp":1776420664000},"page":"684","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["\u201cPolyradiculoneuritis\u201d as an Atypical Clinical Presentation of Creutzfeldt\u2013Jakob Disease: A Case Report and Review of Literature"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3638-5999","authenticated-orcid":false,"given":"Elisa","family":"Colaizzo","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7504-6906","authenticated-orcid":false,"given":"Anna","family":"Ladogana","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-4957","authenticated-orcid":false,"given":"Dorina","family":"Tiple","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-8304","authenticated-orcid":false,"given":"Luana","family":"Vaianella","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5768-4536","authenticated-orcid":false,"given":"Giuseppe","family":"Bufano","sequence":"additional","affiliation":[{"name":"Unit of Laboratory Medicine, Laboratory of Clinical Pathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2820-9880","authenticated-orcid":false,"given":"Fabio","family":"Moda","sequence":"additional","affiliation":[{"name":"Unit of Laboratory Medicine, Laboratory of Clinical Pathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"},{"name":"Department of Medical Biotechnology and Translational Medicine, University of Milan, Via Fratelli Cervi 93, 20054 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4240-5762","authenticated-orcid":false,"given":"Daniela","family":"Merlo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3061-944X","authenticated-orcid":false,"given":"Eloise","family":"Longo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Istituto Superiore di Sanit\u00e0, Viale Regina Elena 299, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2268-3079","authenticated-orcid":false,"given":"Alessia","family":"Perna","sequence":"additional","affiliation":[{"name":"USMAF-SASN Fiumicino, Italian Health Ministry, Via Mario Stoppani, 20, 00054 Fiumicino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/ana.78117","article-title":"The Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype","volume":"99","author":"Baiardi","year":"2025","journal-title":"Ann. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1056\/NEJMoa030351","article-title":"Extraneural pathologic prion protein in sporadic Creutzfeldt-Jakob disease","volume":"349","author":"Glatzel","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1111\/ene.12089","article-title":"A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment","volume":"20","author":"Matsuzono","year":"2013","journal-title":"Eur. J. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/978-1-4939-7244-9_21","article-title":"Real-Time Quaking-Induced Conversion for Diagnosis of Prion Disease","volume":"1658","author":"Satoh","year":"2017","journal-title":"Methods Mol. Biol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2818","DOI":"10.1002\/mds.23397","article-title":"Myoclonus in Creutzfeldt-Jakob disease: Polygraphic and video-electroencephalography assessment of 109 patients","volume":"25","author":"Binelli","year":"2010","journal-title":"Mov. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1001\/jamaneurol.2013.2077","article-title":"Autoantibodies in sporadic Creutzfeldt-Jakob disease","volume":"70","author":"Rudge","year":"2013","journal-title":"JAMA Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"\u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein","year":"1975","journal-title":"J. Psychiatr. Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3298","DOI":"10.4081\/ejh.2021.3298","article-title":"Sporadic Creutzfeldt-Jakob disease: Real-Time Quaking Induced Conversion (RT-QuIC) assay represents a major diagnostic advance","volume":"65","author":"Cazzaniga","year":"2021","journal-title":"Eur. J. Histochem."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/neup.12804","article-title":"An autopsy case of MV2K-type sporadic Creutzfeldt-Jakob disease presenting with characteristic clinical, radiological, and neuropathological findings","volume":"42","author":"Matsuo","year":"2022","journal-title":"Neuropathology"},{"key":"ref_10","first-page":"732","article-title":"Peripheral Neuropathy: Evaluation and Differential Diagnosis","volume":"102","author":"Castelli","year":"2020","journal-title":"Am. Fam. Physician"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1016\/S0140-6736(97)07472-2","article-title":"New variant Creutzfeldt-Jakob disease: Neurological features and diagnostic tests","volume":"350","author":"Zeidler","year":"1997","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1212\/WNL.46.4.1123","article-title":"Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene","volume":"46","author":"Antoine","year":"1996","journal-title":"Neurology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1136\/jnnp-2018-319221","article-title":"Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease","volume":"90","author":"Baiardi","year":"2019","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1007\/s10072-023-07093-0","article-title":"Sensory disturbances in Creutzfeldt-Jakob disease","volume":"45","author":"Appel","year":"2024","journal-title":"Neurol. Sci."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1002\/mus.880151103","article-title":"Demyelinating peripheral neuropathy in Creutzfeldt-Jakob disease","volume":"15","author":"Neufeld","year":"1992","journal-title":"Muscle Nerve"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/S0140-6736(97)03148-6","article-title":"New variant Creutzfeldt-Jakob disease: Psychiatric features","volume":"350","author":"Zeidler","year":"1997","journal-title":"Lancet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1001\/archneur.59.11.1811","article-title":"Creutzfeldt-Jakob disease with amyotrophy and demyelinating polyneuropathy","volume":"59","year":"2002","journal-title":"Arch. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/s00415-009-0037-9","article-title":"Severe and rapidly evolving peripheral neuropathy revealing sporadic Creutzfeldt-Jakob disease","volume":"256","author":"Stojkovic","year":"2009","journal-title":"J. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1007\/s004010051109","article-title":"Disease associated prion protein may deposit in the peripheral nervous system in human transmissible spongiform encephalopathies","volume":"98","author":"Hainfellner","year":"1999","journal-title":"Acta Neuropathol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1093\/brain\/awy358","article-title":"Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease","volume":"142","author":"Rudge","year":"2019","journal-title":"Brain"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2434","DOI":"10.1128\/jvi.76.5.2434-2439.2002","article-title":"PrP expression and replication by Schwann cells: Implications in prion spreading","volume":"76","author":"Follet","year":"2002","journal-title":"J. Virol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1001\/archneur.59.9.1430","article-title":"Impairment of the peripheral nervous system in Creutzfeldt-Jakob disease","volume":"59","author":"Niewiadomska","year":"2002","journal-title":"Arch. Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Cardone, F., and Porreca, F. (2025). Sciatic Integrity Is Necessary for Fast and Efficient Scrapie Infection After Footpad Injection. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26157273"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/j.febslet.2014.01.038","article-title":"Peripherally administrated prions reach the brain at sub-infectious quantities in experimental hamsters","volume":"588","author":"Chen","year":"2014","journal-title":"FEBS Lett."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/acn3.52296","article-title":"Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients","volume":"12","author":"Delorme","year":"2025","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"153","DOI":"10.4103\/ajm.AJM_77_18","article-title":"Creutzfeldt-Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia","volume":"8","author":"Arwani","year":"2018","journal-title":"Avicenna J. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"e173","DOI":"10.1212\/NXI.0000000000000173","article-title":"Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy","volume":"2","author":"Weckhuysen","year":"2015","journal-title":"Neurol. Neuroimmunol. Neuroinflamm."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1111\/neup.12717","article-title":"Abnormal prion protein deposits with high seeding activities in the skeletal muscle, femoral nerve, and scalp of an autopsied case of sporadic Creutzfeldt-Jakob disease","volume":"41","author":"Honda","year":"2021","journal-title":"Neuropathology"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.3233\/JAD-180123","article-title":"Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease","volume":"64","author":"Baiardi","year":"2018","journal-title":"J. Alzheimer\u2019s Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1212\/WNL.48.3.784","article-title":"Peripheral neuropathy in Creutzfeldt-Jakob disease","volume":"48","author":"Esiri","year":"1997","journal-title":"Neurology"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1136\/practneurol-2016-001571","article-title":"CJD mimics and chameleons","volume":"17","author":"Mead","year":"2017","journal-title":"Pract. Neurol."}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/16\/4\/684\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T04:11:02Z","timestamp":1776571862000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/16\/4\/684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,17]]},"references-count":31,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["life16040684"],"URL":"https:\/\/doi.org\/10.3390\/life16040684","relation":{},"ISSN":["2075-1729"],"issn-type":[{"value":"2075-1729","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,17]]}}}