Journal of the Peripheral Nervous System最新文献

{"title":"Long-Term Functional Outcomes in Immunoglobulin-Treated Multifocal Motor Neuropathy Evaluated Through the MMN-Rasch-Built Overall Disability Scale","authors":"Muhammed A. Noushad,&nbsp;Ahmad Al-Areed,&nbsp;Roshan Iqbal,&nbsp;Joumana Freiha,&nbsp;Chinar Osman,&nbsp;Yusuf A. Rajabally","doi":"10.1111/jns.70079","DOIUrl":"10.1111/jns.70079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Long-term functional outcomes are uncertain in immunoglobulin-treated multifocal motor neuropathy (MMN).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively studied consecutive subjects with MMN from two neuromuscular centres in Southampton and Birmingham, UK. Initial and latest MMN-Rasch-built Overall Disability Scale (MMN-RODS) scores and latest immunoglobulin doses were collected. Latest dose alterations and resulting MMN-RODS changes were ascertained.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 32 subjects with MMN (14 females and 18 males). Mean age was 60.0 years (SD: 11.7). Over a mean of 6.2 years, MMN-RODS scores improved in 29 out of 32 (90.6%) subjects and worsened in 3 out of 32 (9.4%) subjects. Mean latest centile MMN-RODS was improved compared to mean initial centile MMN-RODS (81.53 [SD: 14.14] vs. 63.47 [SD: 13.82]; <i>p</i> &lt; 0.001). Mean latest immunoglobulin dose was 26.3 g/week (range: 4–70). There were no associations of the latest immunoglobulin dose with age/disease duration/weight/gender/comorbidities/initial disability/latest disability. There were no inter-centre differences in age/disease duration/weight/gender/comorbidities/initial disability/latest disability. The latest mean immunoglobulin dose was higher in Birmingham than in Southampton (33.9 g/week [SD: 17.1] vs. 18.8 g/week [SD: 8.0]; <i>p</i> = 0.004). Immunoglobulin dose dependency was observed in 16 out of 17 subjects whose last dose alteration was incremental, and in only 3 out of 15 subjects whose last dose alteration was decremental. Dose dependency was demonstrated in a greater proportion of subjects from Birmingham compared to Southampton (13/16 vs. 6/16; <i>p</i> = 0.03).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Function as ascertained by the MMN-RODS shows sustained improvement over &gt; 6 years with individualised immunoglobulin dosing in most subjects with MMN. The large inter-centre/inter-individual dosing and dose dependency variations observed may suggest implications of patient- and physician-related factors, which require further study.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145541137","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":"Validation and Reliability of the Thai Pediatric Charcot–Marie–Tooth Quality of Life Outcome Measure","authors":"Pimchanok Kulsirichawaroj,&nbsp;Arisa Phochaisarn,&nbsp;Sivaporn Limpaninlachat,&nbsp;Nutchavadee Vorasan,&nbsp;Surachai Likasitwattanakul,&nbsp;Sindhu Ramchandren,&nbsp;Michael E. Shy,&nbsp;Oranee Sanmaneechai","doi":"10.1111/jns.70075","DOIUrl":"10.1111/jns.70075","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy that causes progressive muscle weakness, sensory deficits, and impaired mobility, significantly affecting quality of life (QoL). The Pediatric Charcot–Marie–Tooth Quality of Life (pCMT-QoL) instrument was developed specifically for children with CMT. However, a validated Thai version is not yet available.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a cross-sectional study at the Pediatric Neuromuscular Clinic from July 2023 to December 2024. Using a forward–backward translation method, we adapted the pCMT-QoL into Thai. Twenty-three children with CMT and their caregivers completed the Thai questionnaire. We evaluated internal consistency using Cronbach's alpha and test–retest reliability using intraclass correlation coefficients (ICCs). Convergent validity was examined via Pearson correlation between child self-reports and parent-proxy reports across functional, mental, and physical domains.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The Thai pCMT-QoL demonstrated high test–retest reliability (ICC &gt; 0.85) and satisfactory internal consistency (Cronbach's alpha &gt; 0.7) across most domains. Convergent validity was strong for the total and mental domains but weaker for the physical domain, reflecting differences in perception between children and parents. Parents generally reported higher QoL scores than children did, a finding consistent with studies in other neuromuscular diseases. Most participants completed the questionnaire within 15 min, suggesting good feasibility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The Thai pCMT-QoL is a reliable, culturally adapted tool for assessing QoL in children with CMT. It is suitable for both remote and in-clinic administration. Future studies with larger cohorts are needed to confirm its responsiveness to clinical changes and to broaden its application in diverse settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534700","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":"Molecular Characterization of Oxaliplatin-Induced Peripheral Neurotoxicity: The Complex Spectrum of Painful Manifestations","authors":"Eleonora Pozzi,&nbsp;Maria Pina Serra,&nbsp;Marianna Boi,&nbsp;Annalisa Canta,&nbsp;Alessia Chiorazzi,&nbsp;Chiara Capelli,&nbsp;Chiara Invernizzi,&nbsp;Elisa Ballarini,&nbsp;Virginia Rodriguez-Menendez,&nbsp;Margherita Francesca Kraus,&nbsp;Marina Quartu,&nbsp;Guido Cavaletti,&nbsp;Paola Alberti","doi":"10.1111/jns.70078","DOIUrl":"https://doi.org/10.1111/jns.70078","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Oxaliplatin (OHP) induced peripheral neurotoxicity (OIPN) is a complex spectrum comprising an acute and a chronic form. Acute OIPN leads to unpleasant transient sensations in the 24–72 h after chemotherapy, due to a temporary dysfunction in ion channels (i.e., axonal hyperexcitability in the absence of anatomical damage). Whereas chronic OIPN is characterized by painful manifestations. Literature data showed that a more pronounced acute OIPN could be an early predictor of chronic OIPN; thus, acute OIPN is becoming a possible target to prevent chronic OIPN. We went back to the bench side to characterize the complexity of painful phenomena experienced by OHP-treated patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Female OHP-treated (3 mg/Kg, 2qwx4ws, iv) and control rats (<i>n</i> = 10/group) were studied. Acute OIPN was detected via nerve excitability testing (NET), whereas chronic OIPN was assessed via behavioral tests, nerve conduction studies (NCS), and neuropathology (including immunohistochemistry on lumbar spinal cord specimens) both at the end of the full chemotherapy treatment (4 weeks) and at 6 weeks of follow-up. NET was also performed 1 week after treatment completion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>NET alterations related to acute OIPN were resolved within a week after chemotherapy. Whereas, chronic OIPN encountered only partial recovery over time, with prominent small fiber damage. Immunolabeling of the spinal cord at the end of treatment and after the follow-up period was consistent with persistent neuropathic pain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our data supports the statement that unpleasant manifestations due to acute and chronic OIPN mirror different underlying phenomena and assessment as two separate entities should be considered in both clinical and preclinical studies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70078","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145522145","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":"Peripheral Nerve Society Training Grant Program: An Exciting Opportunity Not to Be Missed","authors":"Paola Alberti,&nbsp;Luis Querol","doi":"10.1111/jns.70076","DOIUrl":"10.1111/jns.70076","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513209","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":"Clinical and Radiological Heterogeneity in Anti-Neurofascin-155 Autoimmune Nodopathy: A Case Series Analysis","authors":"Michie Imamura,&nbsp;Hironori Mizutani,&nbsp;Keiichi Nakahara,&nbsp;Hidenori Ogata,&nbsp;Tomoaki Taguchi,&nbsp;Masao Imura,&nbsp;Toshiya Nomura,&nbsp;Yohei Misumi,&nbsp;Noriko Isobe,&nbsp;Mitsuharu Ueda","doi":"10.1111/jns.70077","DOIUrl":"10.1111/jns.70077","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Autoimmune nodopathy with anti-neurofascin-155 (NF155) antibodies is increasingly recognized as a distinct disease entity. Although these patients have been described, not all aspects have been fully elucidated. We investigated clinical phenotypes, biomarker profiles, and treatment outcomes in patients with anti-NF155 antibody-positive autoimmune nodopathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analyzed seven Japanese patients (aged 13–27 years) with anti-NF155 antibody-positive autoimmune nodopathy treated at Kumamoto University Hospital between 2017 and 2020. Clinical, electrophysiological, radiological, and biomarker data were evaluated. One refractory case was followed up for over 80 months, tracking serum neurofilament light chain (sNfL) and anti-NF155 antibody levels in the serum and cerebrospinal fluid (CSF).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All patients exhibited severe sensory ataxia and motor dysfunction. Trigeminal nerve hypertrophy was observed in five individuals, without corresponding symptoms, and pes cavus in one patient. All patients demonstrated a pronounced demyelinating neuropathy phenotype. The mean CSF protein level was 343 mg/dL. Intravenous immunoglobulin (IVIg) had minimal efficacy, while corticosteroids produced good responses in four patients and partial responses in three patients. Rituximab markedly improved a refractory case. Anti-NF155 antibody and sNfL levels correlated with clinical status. Magnetic resonance imaging frequently revealed persistent nerve root hypertrophy despite functional improvement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Anti-NF155 nodopathy is a distinct, biomarker-trackable entity; corticosteroids and rituximab outperform IVIg, challenging conventional practice and highlighting the need for antibody testing, especially in young patients with severe demyelinating neuropathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145513161","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":"Guillain-Barré Syndrome Disability Scale","authors":"Richard A. C. Hughes,&nbsp;D. R. Cornblath,&nbsp;B. C. Jacobs,&nbsp;P. A. van Doorn","doi":"10.1111/jns.70064","DOIUrl":"10.1111/jns.70064","url":null,"abstract":"&lt;p&gt;Fifty years have passed since the Guillain-Barré Syndrome (GBS) Disability Scale (Table 1) was created as a clinical outcome measure for a randomized trial of treatment with prednisolone published in 1978 [&lt;span&gt;1&lt;/span&gt;]. The scale has been used with modifications in most subsequent treatment trials in GBS.&lt;/p&gt;&lt;p&gt;In 1984, the British Plasma Exchange trial used a version of the scale which defined some of the grades in more detail (modifications shown in bold type): grade 2 able to walk &lt;b&gt;5 m without assistance, walking frame, or stick but incapable of manual work including housework, shopping, or gardening&lt;/b&gt;; grade 3 = able to walk &lt;b&gt;5 m with assistance, stick, or walking frame&lt;/b&gt;; and grade 5 requiring assisted ventilation &lt;b&gt;for at least part of the day or night&lt;/b&gt; [&lt;span&gt;2&lt;/span&gt;]. In 1985, the North American Plasma Exchange trial used almost the same version [&lt;span&gt;3&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;In 1991, Kleyweg et al. examined some of the measurement properties of a version of the scale in which the grades were defined slightly differently, increasing the distance to be walked from 5 to 10 m (modifications shown in bold type): grade 1 &lt;b&gt;fully&lt;/b&gt; capable of manual work; grade 2 able to walk &lt;b&gt;&gt; 10 m without any assistance&lt;/b&gt;; grade 3 able to walk &lt;b&gt;&gt; 10 m with a walker or support; and grade 5&lt;/b&gt; assisted ventilation &lt;b&gt;required for at least part of the day&lt;/b&gt;. The modified scale had good reproducibility between observers and correlated closely with strength measured with the sum of the scores of 12 muscle groups each measured on the 0 to 5 Medical Research Council scale (MRC-sumscore) [&lt;span&gt;4&lt;/span&gt;]. This version of the scale was used in the first randomized trial of intravenous immunoglobulin versus plasma exchange published in 1992 [&lt;span&gt;5&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;The 1993 international trial of giving intravenous methylprednisolone with intravenous immunoglobulin added &lt;b&gt;capable of running&lt;/b&gt; to the definition of grade 1. It defined the distance to be walked in grades 2 and 3 as &lt;b&gt;5 m across an open space with the help of one person and a waist-level walking frame, stick, or sticks&lt;/b&gt;, not 10 m [&lt;span&gt;6&lt;/span&gt;]. The 2004 van Koningsveld trial of intravenous methylprednisolone with intravenous immunoglobulin retained capable of running in the definition of grade 1 but used 10 m as the defining distance to be walked in grades 2 and 3 [&lt;span&gt;7&lt;/span&gt;]. Some subsequent studies have included capable of running in the definition of grade 1; others have not; some have used 5 m [&lt;span&gt;8&lt;/span&gt;], but most 10 m in the definition of grades 2 and 3; some have made minor alterations to the wording of the grades, and some have not reported the version of the scale being used. The 2004 van Koningsveld trial [&lt;span&gt;7&lt;/span&gt;] version has been used more frequently than other versions and is also used in the International GBS Outcome Study (IGOS). To create uniformity, we recommend its use clarified by the notes in Table 2 as the standard GBS Disabilit","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145401167","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":"Prognostic Nutritional Index as a Biomarker of Disease Severity and Long-Term Outcome in Guillain–Barré Syndrome","authors":"Pritha Promita Biswas,&nbsp;Israt Jahan,&nbsp;Jigishu Ahmed,&nbsp;Nowshin Papri,&nbsp;Rasel Ahmed,&nbsp;Sarah Khurshid,&nbsp;Quazi Deen Mohammad,&nbsp;Gulshan Ara,&nbsp;Zhahirul Islam","doi":"10.1111/jns.70071","DOIUrl":"10.1111/jns.70071","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Guillain–Barré syndrome (GBS) exhibits clinical heterogeneity and variable progression. In low-resource settings, malnutrition and limited treatment worsen prognosis, underscoring the need for a simple prognostic tool. This study evaluated the Prognostic Nutritional Index (PNI) and Nutritional Risk Index (NRI) in relation to GBS severity and long-term outcomes, comparing their predictive value with standard prognostic indicators.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An observational cohort study of 252 GBS patients enrolled between 2019 and 2024 was conducted. PNI and NRI were calculated using serum albumin, lymphocyte count, and body weight. The GBS-disability score (GBS-DS) assessed baseline severity and 26-week outcomes. Statistical analysis included Chi-square tests, Mann–Whitney <i>U</i> tests, Spearman's <i>ρ</i>, and logistic regression to identify predictors. ROC analysis determined optimal PNI cut-offs, confirmed by Kaplan–Meier survival curves.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>PNI, unlike NRI, was significantly reduced in severe GBS (GBS-DS &gt; 3) compared to mild/moderate GBS (GBS-DS ≤ 3). PNI correlated with GBS-DS (<i>ρ</i> = −0.62), MRC sum score (<i>ρ</i> = 0.5), hemoglobin (<i>ρ</i> = 0.53), and neutrophil count (<i>ρ</i> = −0.35) (all <i>p</i> &lt; 0.0001). PNI independently predicted disease severity (odds ratio [OR] = 0.91; <i>p</i> = 0.036) and 26-week outcomes (OR = 0.93; <i>p</i> = 0.033). Area under the ROC curve (AUC) was 0.769 for severity and 0.719 for 26-week outcomes. PNI cut-offs of 49.395 and 45.72 predicted severe GBS and long-term poor outcome, respectively. Kaplan Meier analysis confirmed patients with PNI &lt; 45.72 required a longer time to gain independent locomotion (<i>p</i> &lt; 0.0001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Lower PNI, but not NRI, is associated with greater GBS severity and poor long-term outcomes. PNI independently predicted disease severity and 26-week outcomes, with specific cut-offs identifying patients requiring longer recovery, supporting its prognostic utility.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145390741","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":"Wearable Monitoring Captures Sleep Disturbances in Patients With Chronic Inflammatory Demyelinating Polyneuropathy","authors":"Jan Voth,&nbsp;Charlotte von Gall,&nbsp;Noëmi Gmahl,&nbsp;Noah M. Werner,&nbsp;Gerd Meyer zu Hörste,&nbsp;Sven G. Meuth,&nbsp;Marc Pawlitzki,&nbsp;Lars Masanneck","doi":"10.1111/jns.70069","DOIUrl":"https://doi.org/10.1111/jns.70069","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Previous studies suggest that patients with chronic inflammatory demyelinating polyneuropathy (CIDP) experience impaired sleep, contributing to fatigue. Traditional methods like polysomnography or questionnaires are resource-intensive and may not capture sleep in natural settings. We explored whether widely available consumer-grade smartwatches offer a feasible way to assess sleep quality in this population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The Electronic Monitoring of Disease Activity in patients with CIDP (EMDA-CIDP) study was a prospective observational study conducted from January 2023 to July 2024 at the University Hospitals of Düsseldorf and Münster. 46 patients had nighttime sleep recorded for 6 months via smartwatch. Additionally, clinical scores (e.g., Inflammatory Rasch-built Overall Disability Scale), sleep (PSQI, Pittsburgh Sleep Quality Index), and quality of life (QoL) questionnaires were collected every 3 months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 46 participants, 40 met adherence criteria (≥ 75% wear time on ≥ 75% of nights, median age: 66 years [IQR: 59.5–70.3], 9 [22.5%] female). Median PSQI score was 6 (4–7.6), sleep efficiency 93% (92–95), and WASO (wake after sleep onset) 32 min (24–42). Smartwatch-derived objective sleep measures – sleep efficiency and WASO – correlated significantly with PSQI (Spearman's <i>R</i> = −0.49, <i>R</i> = 0.40), clinical scores, and QoL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Sleep is impaired in patients with CIDP and contributes to the overall disease burden. Our findings suggest that sleep disturbances can be tracked longitudinally using smartwatch-derived markers. Integrating digital health data presents promising opportunities for long-term sleep monitoring in this population. Larger studies, ideally incorporating polysomnography, are warranted to validate these findings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70069","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145317363","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":"Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22-p24 HSN1B Locus","authors":"Bianca R. Grosz,&nbsp;Melina Ellis,&nbsp;Shuchi Trivedi,&nbsp;Carolin Scriba,&nbsp;Marion Stoll,&nbsp;Danqing Zhu,&nbsp;Sanjog R. Chintalaphani,&nbsp;Igor Stevanovski,&nbsp;Andrea Cortese,&nbsp;Penelope J. Spring,&nbsp;Nigel G. Laing,&nbsp;Ira W. Deveson,&nbsp;Mary M. Reilly,&nbsp;Garth A. Nicholson,&nbsp;Kishore R. Kumar,&nbsp;Steve Vucic,&nbsp;Marina L. Kennerson","doi":"10.1111/jns.70070","DOIUrl":"10.1111/jns.70070","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Hereditary sensory neuropathies (HSN) are a group of heterogenous peripheral neuropathies presenting primarily with distal sensory loss. Biallelic expansions in intron 2 of <i>RFC1</i> (replication factor C subunit 1) can cause autosomal recessive HSN. We aimed to reassess two previously reported families (HSN32 and HSN35) with “autosomal dominant HSN1 with cough and gastroesophageal reflux.” The phenotype was designated HSN1B and linked to chromosome 3p22–p24, although no causative variant was identified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Due to the phenotypic similarities between HSN1B and biallelic <i>RFC1</i> expansions, targeted long-read sequencing (LRS) of the HSN32 proband was performed. <i>RFC1</i> expansion analysis was then conducted on available individuals from HSN32 and HSN35 using flanking PCR, repeat-primed PCR (RP-PCR), and targeted LRS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>LRS of the proband (Generation III) from HSN32 revealed a novel complex <i>RFC1</i> expansion (AGGGC₇₅₀AAGGC₁₅₀) in trans with a known pathogenic AAGGG₈₀₀ expansion. Extended <i>RFC1</i> analysis showed the proband's affected father (Generation II) reproduced with an unaffected carrier of the novel <i>RFC1</i> AGGGC₇₅₀AAGGC₁₅₀ expansion to produce the affected proband. Further analysis of the affected father and his four affected siblings (Generation II) identified pathogenic biallelic <i>RFC1</i> AAGGG_exp expansions inherited from their carrier parents (Generation I). For family HSN35, both affected individuals previously reported in the second HSN1B family had biallelic AAGGG_exp <i>RFC1</i> expansions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Affected individuals across consecutive generations in HSN32 resulted in the erroneous mapping of an “autosomal dominant” HSN1B chr3p22-p24 locus. The HSN1B locus should therefore no longer be considered a valid locus for HSN.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286387","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":"Correction to “Polyneuropathy in Kidney Transplant Recipients: Accuracy of a New Clinical Diagnostic Scoring System”","authors":"","doi":"10.1111/jns.70068","DOIUrl":"10.1111/jns.70068","url":null,"abstract":"<p>S. Nolte, N. B. N. Shehab, S. P. Berger, et al., “Polyneuropathy in Kidney Transplant Recipients: Accuracy of a New Clinical Diagnostic Scoring System,” <i>Journal of the Peripheral Nervous System</i> 30, no. 3 (2025): e70058, https://doi.org/10.1111/jns.70058.</p><p>In the legend of Figure G2 in Appendix G, the sentence “All presented diagnostic models show a higher net benefit than diagnosing all (red curve), from which we conclude that either diagnostic model would lead to more accurate diagnoses, with the KTNS_Advanced and KTNS_Basic having the best performance.” was incorrect. This should have read: “All presented diagnostic models show a higher net benefit than diagnosing all (red curve), from which we conclude that either diagnostic model would lead to more accurate diagnoses, with the KTNS_Advanced having the best performance.”</p><p>We apologize for this error.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286377","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}