Journal of the Peripheral Nervous System最新文献

{"title":"Abstracts of the 36th Annual Meeting of the Japanese Peripheral Nerve Society (JPNS)","authors":"","doi":"10.1111/jns.70092","DOIUrl":"10.1111/jns.70092","url":null,"abstract":"<p>September 19–20, 2025</p><p>Kitakyushu, Japan</p><p>President of JPNS: Kenichi Kaida</p><p>Congress Chair: Akinori Sakai</p><p>Scientific Committee (Editors of JPNS): Kazunori Sango,</p><p>Yoshiki Sekijima, Shigeru Kurimoto,</p><p>Ayato Hayashi, Ryosuke Ikeguchi, Norimasa Iwasaki,</p><p>Haruki Koike, Norito Kokubun, Hiroki Mizukami, Yasumasa Nishiura,</p><p>Akinori Sakai, Kazuma Sugie, Hiroshi Takashima</p><p>Organizing Committee: Akinori Sakai, Hiroaki Adachi,</p><p>Yukichi Zenke, Akiko Hachisuka</p><p>JPNS Editorial Staff: Kana Shimada</p><p>JPNS Secretariat: Munehisa Izuno, Haruna Tanaka</p><p>Organizing Secretariat: www.congre.co.jp/jpns2025/</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 S1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70092","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030007","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":"Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America","authors":"Rafael Oliveira Vidon,&nbsp;Pedro José Tomaselli,&nbsp;Caroline Bittar-Braune,&nbsp;Izabela Jardim Pitta,&nbsp;Glenda Corrêa Borges de Lacerda,&nbsp;Márcia Jardim","doi":"10.1111/jns.70099","DOIUrl":"10.1111/jns.70099","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Biallelic pathogenic variants in <i>PLEKHG5</i> are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot-Marie-Tooth disease type C (CMT). No South American cases have been previously reported.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We evaluated a male patient with suspected hereditary neuropathy using clinical, electrophysiological, and genetic studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Symptoms began at 12 years with progressive distal weakness. At 40 years, he had foot drop, pes cavus, distal atrophy, areflexia, and sensory loss to the knees. Disability scales indicated moderate impairment. Electroneuromyography revealed abolished responses in the lower limbs and motor conduction velocities in the intermediate range (35–40 m/s). Genetic analysis identified the homozygous variant c.59G&gt;A (p.Arg20Gln) in <i>PLEKHG5</i>, currently classified as VUS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This reports presents a case from South American linking a homozygous <i>PLEKHG5</i> variant to recessive intermediate CMT, expanding the geographic and phenotypic spectrum of <i>PLEKHG5</i>-related neuropathies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146010979","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":"Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease","authors":"Bogdan Bjelica,&nbsp;Corinna Hendrich,&nbsp;Sandra von Hardenberg,&nbsp;Milica Vukojevic,&nbsp;Sonja Körner,&nbsp;Thomas Gschwendtberger,&nbsp;Aiden Haghikia,&nbsp;Stojan Peric,&nbsp;Susanne Petri","doi":"10.1111/jns.70100","DOIUrl":"10.1111/jns.70100","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of <i>DNAJB2</i>- and <i>HINT1</i>-related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non-motor symptoms and quality of life (QoL) in affected individuals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Six patients carrying two novel <i>DNAJB2</i> variants and six age-matched patients with <i>HINT1</i> variants underwent detailed clinical and electrophysiological characterization. Motor function was assessed longitudinally using the Medical Research Council (MRC) scale. Non-motor symptoms (neuropathic pain, autonomic dysfunction, depression, fatigue, restless legs syndrome) and QoL were evaluated with patient-reported outcomes and compared to four healthy controls (HC).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both patient groups exhibited a CMT2 phenotype. Nerve conduction studies revealed a length-dependent axonal predominantly motor but not pure motor neuropathy in most of the patients. Disease onset tended to occur later in patients with <i>DNAJB2</i> variants, who yet developed more severe neuropathy. The spectrum of additional clinical features differed between the two groups. All patients with <i>DNAJB2</i> variants fulfilled criteria for depression, compared with one with a <i>HINT1</i> variant. Significant fatigue was present in the majority of both groups, while restless legs syndrome was observed in four patients with a <i>DNAJB2</i> variant but in none with a <i>HINT1</i>. QoL was significantly reduced in <i>DNAJB2</i> versus HC, with no difference in QoL between patients with <i>DNAJB2</i> and <i>HINT1</i> variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study expands the clinical spectrum of <i>DNAJB2</i>- and <i>HINT1</i>-related neuropathies, highlighting distinct non-motor features and their impact on QoL, and providing the first direct comparison of these two rare axonal disorders.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12813656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998084","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":"Persistent Sciatic Artery as a Rare Cause of Sciatic Neuropathy: A Case Report","authors":"Octavian Vatavu,&nbsp;Sara Ciletti,&nbsp;Niccolò Innocenti,&nbsp;Vittoria Maria Luisa Cojazzi,&nbsp;Grazia Devigili,&nbsp;Marco Moscatelli,&nbsp;Vittoria Nazzi","doi":"10.1111/jns.70102","DOIUrl":"10.1111/jns.70102","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Persistent Sciatic Artery (PSA) is a rare congenital vascular anomaly, affecting 0.05% of the population. It arises from the failure of regression of the embryonic sciatic artery, which normally recedes as the superficial femoral artery (SFA) becomes dominant in lower limb perfusion. In cases of persistence, the sciatic artery remains as a continuation of the internal iliac artery. PSA is classified based on its persistence and anatomical relationship with the SFA and is associated with complications such as limb ischemia, aneurysmal degeneration, and thromboembolism, which may clinically manifest as gluteal pain, claudication, or acute ischemia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We describe the case of a 50-year-old woman with a longstanding history of left-sided sciatica and paresthesia, refractory to medical therapy. Neurological examination revealed a positive Tinel's sign along the course of the sciatic nerve, and imaging studies confirmed a Pillet-Gauffre type 1 PSA, in close anatomical contiguity with the nerve. Angio-CT excluded associated aneurysmal changes. In the absence of motor involvement, a conservative management strategy was adopted, with referral for vascular surgical evaluation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Sciatic nerve compression secondary to PSA is exceedingly rare, with most documented cases attributed to aneurysmal dilation exerting mass effect. Electrophysiological features of PSA-related sciatic neuropathy are unreported. This case emphasizes the possibility of including PSA within the differential diagnosis of sciatic pain, particularly when conventional aetiologies have been excluded. Recognition of this vascular anomaly is essential for accurate diagnosis and appropriate management, as surgical intervention does not uniformly result in symptoms resolution.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145998453","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":"Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil","authors":"Gustavo Maximiano-Alves,&nbsp;Carolina Lavigne-Moreira,&nbsp;Marcus Vinicius Simões,&nbsp;Adilson Junior Pinto Galvão,&nbsp;Flavio Henrique Valicelli,&nbsp;Fernando Saraiva Coneglian,&nbsp;Elisa Vegezzi,&nbsp;Pedro Manoel Marques Garibaldi,&nbsp;Pedro José Tomaselli,&nbsp;Andrea Cortese,&nbsp;Wilson Marques Jr","doi":"10.1111/jns.70097","DOIUrl":"10.1111/jns.70097","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and has therapeutic implications given the availability of disease-modifying treatments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study characterizes the genetic landscape and clinical onset spectrum of ATTRv in an admixed Brazilian cohort of 175 patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seven <i>TTR</i> pathogenic variants (p.Val50Met, p.Val142Ile, p.Ile127Val, p.Ile88Leu, p.Ala39Asp, p.Phe84Leu, p.Tyr98Phe) were identified. The most common was p.Val50Met (58.8%), followed by p.Val142Ile (29.7%) and p.Ile127Val (7.4%). Notably, 44% of V122I had a neurological onset. Close clinical monitoring of presymptomatic carriers reduced age at diagnosis by 10.5 years. The median AOO was 50 years, with V30M patients presenting earlier (38.5 years) than V122I (p.Val142Ile) (60y) and I107V (p.Ile127Val) (60 years). Familial cases showed a 20.5-year earlier AOO than sporadic cases. In Brazil, late-onset (&gt; 50 years) V30M is more common than previously reported (37.5%); ethnicity can influence AOO within the same variant, and for the first time, we show a distinct geographic pattern: early-onset V30M is more frequent in São Paulo/South, whereas late-onset V30M predominates in the central region.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study emphasizes the heterogeneity of ATTRv presentation in admixed populations and underscores the need for expanded screening and multicenter studies to refine genotype–phenotypic correlations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12777902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145911664","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":"Evaluation of Nicotinamide Riboside in Prevention of Small Nerve Fiber Axon Degeneration and Promotion of Nerve Regeneration","authors":"Simone Thomas,&nbsp;Remi Ben-Davies,&nbsp;Aysel Cetinkaya-Fisgin,&nbsp;Xindan Hu,&nbsp;Xiaoling Li,&nbsp;Sarah Stewart,&nbsp;Baohan Pan,&nbsp;Jeffery L. Twiss,&nbsp;Rajiv R. Ratan,&nbsp;Dianna Willis,&nbsp;Michael Polydefkis,&nbsp;Ahmet Höke","doi":"10.1111/jns.70101","DOIUrl":"10.1111/jns.70101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Recent preclinical studies have shown that nicotinamide adenine dinucleotide (NAD⁺) plays a critical role in molecular mechanisms of axon degeneration, and reductions in NAD⁺ levels are associated with axonal degeneration. Nicotinamide riboside (NR) is a safe and widely available pyridine-nucleoside form of vitamin B3 and is an NAD⁺ precursor.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>To investigate if oral supplementation of synthetic NR can act as a therapeutic agent to prevent degeneration of small somatic sensory axons innervating the skin or promote regeneration of these same fibers in humans, we utilized a validated experimental model of cutaneous nerve degeneration and regeneration and conducted a placebo-controlled, double-blinded Phase 2 study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>NR supplementation did not result in elevation of plasma NAD⁺ levels but resulted in a small increase in NAD⁺ in the skin samples. NR supplementation did not prevent capsaicin-induced degeneration of the epidermal sensory nerve fibers, and there was no difference in the amount of epidermal reinnervation at the 90-day visit. Although there was a small but statistically significant increase in the number of epidermal sensory nerve fibers at the 60-day visit, these results are preliminary and will need to be validated in larger studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>At present oral NR supplementation, at the doses used in this study, cannot be recommended to prevent neuropathy or to improve nerve regeneration.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145916973","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":"Utility of the “Modified Erasmus GBS Respiratory Insufficiency Score” in Axonal and Demyelinating Guillain–Barré Syndrome","authors":"Yukari Sekiguchi,&nbsp;Sonoko Misawa,&nbsp;Marie Morooka,&nbsp;Tomoki Suichi,&nbsp;Yuki Shiko,&nbsp;Kohei Takahashi,&nbsp;Satoshi Kuwabara","doi":"10.1111/jns.70096","DOIUrl":"10.1111/jns.70096","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The modified Erasmus GBS Respiratory Insufficiency Score (mEGRIS) has been proposed to be a useful tool for predicting the risk of mechanical ventilation (MV) in Guillain–Barré syndrome (GBS), whereas most of the patients included in previous studies had classical demyelinating GBS. This study validated the utility of the mEGRIS in axonal, as well as demyelinating GBS, defined by electrophysiologic criteria in Japan.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 214 consecutive patients diagnosed with GBS at our institution within 28 days from disease onset between 1998 and 2023 were reviewed and 200 patients with adequate data were analyzed. Acute motor axonal neuropathy (AMAN) and acute inflammatory demyelinating polyneuropathy (AIDP) were diagnosed by sequential nerve conduction studies and mEGRIS was applied to each group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 200 GBS patients were classified as AMAN (<i>n</i> = 73 [37%]), AIDP (<i>n</i> = 72 [36%]), or unclassified (<i>n</i> = 55 [28%]) and 27 (14%) patients required MV (18% of AMAN, 15% of AIDP). Patients with MV had a significantly higher mEGRIS than those without MV (17 [median range: 5–29] vs. 6 [0–22]). Approximately 81% of the patients in the moderate- or high-risk group (mEGRIS ≧ 18) required MV. Area under the curves (AUCs) of the mEGRIS prediction formulas was 0.89 (95% CI, 0.82–0.96) for total GBS group and 0.92 (95% CI, 0.85–1.00) for the AMAN group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The mEGRIS is useful for predicting MV risk in patients with AMAN, as well as AIDP. Close monitoring was required for patients who were classified as moderate or high-risk by mEGRIS, irrespective of GBS subtypes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145906216","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":"Patient Outcomes Among Medicare Beneficiaries With Guillain–Barré Syndrome","authors":"Brad Wright,&nbsp;Samantha R. Eiffert,&nbsp;Abagail Cirincione,&nbsp;Joshua Nardin,&nbsp;James F. Howard Jr,&nbsp;Rebecca E. Traub","doi":"10.1111/jns.70094","DOIUrl":"10.1111/jns.70094","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Understanding of population-level outcomes for patients with Guillain–Barré syndrome (GBS) remains limited. We identified which GBS patients are most likely to experience worse outcomes using the largest and most current GBS cohort in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective cohort study used 2005–2020 fee-for-service Medicare claims to identify individuals newly diagnosed with GBS (<i>N</i> = 16 280). We used three person-level modified Poisson regressions to estimate hospital and intensive care unit (ICU) lengths of stay and GBS episode length as a function of sociodemographic characteristics, comorbid conditions, and year of diagnosis. We also documented hospital-acquired pressure ulcers and deep vein thromboses as quality indicators.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median hospital length of stay was 9 days [IQR: 6–18 days] and median GBS episode length was 26 days [IQR: 10–60 days]. Approximately 43% of patients spent time in the ICU, with most of those stays (57%) lasting ≤ 1 week. On average, stays and episodes were significantly longer for men, those with a disability, and those diagnosed with an impulse control disorder, other nervous system diagnoses, or certain cancers, but significantly shorter for Black individuals and those dually eligible for Medicare and Medicaid. Most patients avoided developing pressure ulcers (96%) or deep vein thromboses (91%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The GBS disease course varies significantly among Medicare enrollees. We identified some factors associated with worse GBS outcomes and others suggesting structural barriers to care. Our findings can improve care delivery by helping clinicians identify high-risk patients, facilitate early interventions, and reduce morbidity and mortality.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12748927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145856773","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":"Prospective Evaluation of Machine-Assisted Electrophysiologic and Online Clinical Diagnostic Support Tools in Chronic Inflammatory Demyelinating Polyradiculoneuropathy","authors":"Michael P. Skolka,&nbsp;Grace Swart,&nbsp;Shahar Shelly,&nbsp;Thapat Wannarong,&nbsp;Stefan Stålberg,&nbsp;Benjamin Stålberg,&nbsp;Abe Gardner,&nbsp;Jacob Price,&nbsp;Ruple S. Laughlin,&nbsp;Divyanshu Dubey,&nbsp;John R. Mills,&nbsp;Jay Mandrekar,&nbsp;Christopher J. Klein","doi":"10.1111/jns.70084","DOIUrl":"10.1111/jns.70084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a common, treatable, autoimmune, neuropathy frequently misdiagnosed. The complex electrodiagnostic (EDX) criteria required for diagnosis are challenging to apply in routine practice. This study evaluates the effectiveness of a machine-assisted EDX tool in real-time identification of demyelinating nerve conduction studies (NCS) stipulated by 2021-EAN/PNS CIDP criteria in conjunction with an online CIDP clinical probability calculator.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We prospectively evaluated 100 consecutive patients with referral or EDX diagnosis of polyradiculoneuropathy beginning January 1, 2024. Fifty patients were included, each from Jacksonville and Rochester Mayo Clinics. Routine electromyography (EMG) reports were compared to a machine-assisted support tool applying 2021-EAN/PNS CIDP EDX criteria to NCS assessing demyelination. The EDX-assistant performance was compared to the final clinical diagnosis and our previously reported online CIDP clinical prediction tool (https://news.mayocliniclabs.com/cidp-calculator/).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 100 patients (60% male; median age 64), 30 had a final clinical CIDP diagnosis with 29 having intravenous immunoglobulin follow-up; 27 (93%) improved and 2 (7%) stabilized. Routine EMGs reported demyelination in 14 of 30 (47%), with 46% sensitivity and 79% specificity. The EDX-assistant identified CIDP demyelination in 28 of 30 (93%), with 93% sensitivity and 57% specificity. The clinical calculator detected CIDP in 30 of 30 (100%) with 86% specificity, increasing to 94% after excluding false positives lacking demyelinating features on the EDX tool.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>A real-time machine-assisted EDX support tool, used with a clinical web-based calculator, streamlines CIDP assessment by improving standardized identification of 2021-EAN/PNS CIDP demyelinating NCS criteria and aiding clinical decisions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145781638","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":"Longitudinal Assessment of Quality of Life and Functionality by CAP-PRI in Patients With Active Chronic Inflammatory Demyelinating Polyradiculoneuropathy","authors":"Ivo Bozovic,&nbsp;Kelly Gwathmey,&nbsp;Stojan Peric,&nbsp;Aleksandra Kacar,&nbsp;Jelena Lazovic,&nbsp;Reza Sadjadi,&nbsp;Ivana Basta","doi":"10.1111/jns.70091","DOIUrl":"10.1111/jns.70091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>In most studies to date, generic health-related quality of life (QoL) questionnaires have been used in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Unfortunately, these tools are often considered insufficient for capturing the unique characteristics of this specific, rare disease. The Chronic Acquired Polyneuropathy Patient-Reported Index (CAP-PRI) is a measure which specifically targets patients with chronic immune-mediated polyneuropathies. This is the first study which longitudinally assessed QoL and functionality by CAP-PRI in patients with active CIDP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>CAP-PRI testing was conducted at three time points (baseline, year one and year four) in 57 CIDP patients with active disease at baseline. In addition, the Medical Research Council Sum Score (MRC-SS), Inflammatory Neuropathy Cause and Treatment (INCAT) disability score, Inflammatory Rasch-built Overall Disability Scale (I-RODS), and the generic QOL instrument, the Short Form 36 (SF-36) were used in all tested patients at all three time points.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At the baseline and two other time points, CAP-PRI showed strong correlations with impairment (MRC-SS), functionality (INCAT, I-RODS), and the SF-36. At year one and year four, CAP-PRI was able to make a differentiation between patients whose impairment/disability improved compared to patients who deteriorated, and it performed better than SF-36. One- and four-year changes in CAP-PRI correlated with a change in MRC-SS, INCAT, and I-RODS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>CAP-PRI is a highly reliable and sensitive measure for assessing QoL in patients with active CIDP. Its consistent performance over time supports its utility in monitoring CIDP patients with active disease in clinical and research settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774840","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}