Journal of the Peripheral Nervous System最新文献

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148083178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148077175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148125568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148099536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148118857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148089051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic Nonsense Variants in NEFL May Cause a Non-Length-Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies","authors":"Marcus Vinícius Vieira da Silva Gomes,&nbsp;Pedro José Tomaselli,&nbsp;Wilson Marques Jr","doi":"10.1111/jns.70119","DOIUrl":"10.1111/jns.70119","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Pathogenic variants in <i>NEFL</i>, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot-Marie-Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early-onset CMT carrying nonsense variants in the <i>NEFL</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Clinical, genetic, and electrophysiological data were collected prospectively and systematically analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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–length-dependent 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-exome sequencing of the probands identified two distinct homozygous pathogenic nonsense variants in <i>NEFL</i>: c.54G&gt;C; p.Tyr18* in proband I-1 and c.796G&gt;T; p.Glu266* in proband II-1. Sanger sequencing confirmed segregation of the respective variants in affected siblings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study suggests that recessive nonsense variants in <i>NEFL</i> may cause a non-length-dependent sensory and motor neuropathy with facial involvement and temporal dispersion on nerve conduction studies, mimicking an acquired inflammatory demyelinating neuropathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13033916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147574780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Next-Generation ELISA for the Detection of Anti-(Para)Nodal Antibodies in Autoimmune Nodopathy and COVID-19 Vaccinated Individuals","authors":"Luise Appeltshauser,&nbsp;Chiara Ruprecht,&nbsp;Julia Reusch,&nbsp;Juliane Mees,&nbsp;Helena Glenewinkel,&nbsp;Claudia Sommer,&nbsp;Manuel Krone,&nbsp;Isabell Wagenhäuser,&nbsp;Kathrin Doppler,&nbsp;Nils Petri","doi":"10.1111/jns.70117","DOIUrl":"10.1111/jns.70117","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Autoimmune nodopathy (AN) is a subtype of antibody-mediated inflammatory neuropathy targeting the node of Ranvier (NoR). Diagnosis requires detection of anti-(para)nodal autoantibodies like contactin-1 and neurofascin-155 via ELISA or cell-based assays, but protocols are inconsistent. Causes of node autoimmunity are unknown, and respiratory infections, including SARS-CoV-2 infection or COVID-19 vaccination as triggers, have not been thoroughly investigated. We aim to establish and validate a next-generation automated ELISA for anti-(para)nodal antibodies and investigate whether low-titer antibodies occur in recently COVID-19-vaccinated healthy individuals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used the Ella platform to customize an automated ELISA for anti-contactin-1, −neurofascin-155, and -Caspr-1 serum IgG. Patients with known AN (23 anti-neurofascin, 13 anti-contactin-1, and 8 anti-Caspr-1), 64 patients with seronegative (sub) acute inflammatory neuropathies, and 30 healthy controls served for validation, including quality analysis versus standard ELISA. Thirty-seven diagnostic samples of patients with suspected AN and 280 sera of healthcare workers included in the CoVacSer study, collected 3 weeks after COVID-19 vaccination or infection, were tested for anti-contactin-1 and anti-neurofascin-155.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The automated ELISA showed high sensitivity (87.5%–100%) and specificity (98.4%–100%) for identifying AN, with reduced hands-on time, high automation, and similar quality and titer characteristics as standard ELISA. Low-titer anti-neurofascin-155, but no anti-contactin-1 autoantibodies, were detected in 1/280 post-SARS-CoV-2-vaccination or infection sera (0.36%). Longitudinal testing and clinical assessment did not indicate SARS-CoV-2-related neurological symptoms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>We provide a highly automated, rapid, universally applicable test platform for anti-(para)nodal antibodies. The low frequency of anti-(para)nodal antibodies and absence of clinical AN manifestations in COVID-19-vaccinated individuals support vaccination safety regarding AN development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 2","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13033911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147574852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CIDP With and Without Monoclonal Gammopathy of Undetermined Significance (MGUS): Comparison of Clinical Phenotype, Diagnostic Features, and Treatment Response","authors":"R. van Veen,&nbsp;A. E. Baars,&nbsp;I. N. van Doorn,&nbsp;M. Michael,&nbsp;S. R. M. Bus,&nbsp;M. C. Broers,&nbsp;W. L. van der Pol,&nbsp;P. A. Van Doorn,&nbsp;J. Drenthen,&nbsp;C. Verhamme,&nbsp;J. M. I. Vos,&nbsp;I. N. van Schaik,&nbsp;H. S. Goedee,&nbsp;L. Wieske,&nbsp;B. C. Jacobs,&nbsp;F. Eftimov,&nbsp;for the ICOS Consortium","doi":"10.1111/jns.70116","DOIUrl":"10.1111/jns.70116","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Monoclonal gammopathy of undetermined significance (MGUS) occurs in some patients with chronic inflammatory demyelinating polyneuropathy (CIDP), but its impact on clinical phenotype and treatment response remains unclear. We assessed the prevalence of paraproteinemia in CIDP and compared disease features between CIDP patients with and without MGUS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used data from the International CIDP Outcome Study (ICOS), a prospective cohort study. We compared the prevalence and causes of paraproteinemia in CIDP to matched disease controls (axonal polyneuropathy or motor neuron disease) and compared disease features and treatment responses between CIDP patients with and without MGUS. Treatment response, defined as a ≥ 1-point improvement on the modified Rankin scale, was retrospectively assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>IgG paraproteinemia was more common in CIDP than in controls (9%, 17/193 vs. 3%, 6/192; <i>p</i> = 0.03). IgM and IgA paraprotein prevalences did not differ. One CIDP patient had Waldenström macroglobulinemia; others had MGUS. Patients with IgG MGUS less often had an acute clinical presentation (6% vs. 33%; <i>p</i> = 0.02), more often had sensory deficits (94% vs. 67%; <i>p</i> = 0.02), and prolonged distal CMAP duration (64% vs. 31%; <i>p</i> = 0.02), compared to patients without MGUS. First-line treatment response rates were comparable (80% [IgG MGUS] vs. 67% [no MGUS]; <i>p</i> = 0.39).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>IgG MGUS is more prevalent in CIDP than in controls. Presence of IgG MGUS is weakly associated with some CIDP disease features, but not treatment response. These findings indicate that, although IgG MGUS is associated with CIDP, the presence of IgG MGUS does not constitute a distinct subgroup with unique clinical features or treatment implications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12981947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overall Diagnostic Performance of Multiple Versus Single Physical Examination Tests for the Prediction of Future Diabetic Neuropathy Risk","authors":"Ethan Parikh,&nbsp;Abdulrhman Al Mulla,&nbsp;Leif Erik Lovblom,&nbsp;Dalton R. Budhram,&nbsp;Andrej Orszag,&nbsp;Marcello Falappa,&nbsp;Hoda Gad,&nbsp;Vera Bril,&nbsp;Bruce A. Perkins","doi":"10.1111/jns.70114","DOIUrl":"10.1111/jns.70114","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The American Diabetes Association recommends three rather than one physical examination test for diabetic peripheral neuropathy (DPN) screening, although supporting evidence for the more complex screening strategy remains limited.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>We aimed to determine if a three-test strategy was superior to a single-test in sensitively identifying early stages of neuropathy risk.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using longitudinal data from 170 adults without DPN, we compared the overall accuracy, represented by the area under the receiver operating characteristic curve (AUC), for the three-test versus one-test strategies. These were conducted for monofilament, pinprick, and vibration sensation compared to the Sum of Abnormal Tests (primary analysis) or a model-based probability from quantitative scores for each test in the prediction of nerve conduction study-defined incident DPN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Incident DPN occurred in 53 (31%) participants over a mean 4-year follow-up. Predictive AUC for both the Sum of Abnormal Tests or the model-based probability did not differ from the AUC for monofilament (0.66 vs. 0.71, <i>p</i> = 0.05 and 0.71 vs. 0.71, <i>p</i> = 0.79, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>A complex three-test strategy did not outperform the best-performing single-test strategy, implying that practice guidelines that recommend simplified approaches to neuropathy screening are valid.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147390375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}