Journal of the Peripheral Nervous System最新文献

{"title":"High-Fat Diet Disrupt Nerve Function by Targeting Schwann Cells","authors":"Amanda S. Mondschein,&nbsp;Mathieu R. DiPersio,&nbsp;Julia Zajaceskowski,&nbsp;Hasitha Nimmagadda,&nbsp;Jenica Acheta,&nbsp;Abigail E. Salinero,&nbsp;Sarah Haslam,&nbsp;Elwenn Poitelon,&nbsp;Sophia Elston,&nbsp;Ethan McFarland,&nbsp;Brianna Beck,&nbsp;Kristen L. Zuloaga,&nbsp;Amy E. Rumora,&nbsp;Yannick Poitelon,&nbsp;Sophie Belin","doi":"10.1111/jns.70036","DOIUrl":"https://doi.org/10.1111/jns.70036","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Diabetic peripheral neuropathy (DPN) is a debilitating complication of diabetes, with Schwann cell dysfunction increasingly implicated in disease progression. This study aimed to investigate how high-fat diet (HFD)-induced metabolic syndrome (MetS) affects Schwann cells and peripheral nerve function in male and female mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Male and female C57BL/6J mice were fed a standard diet (SD) or HFD for 33 weeks. Metabolic phenotyping included body weight, fasting blood glucose, and glucose tolerance tests. Peripheral nerve function was assessed via motor and sensory nerve conduction velocities (NCVs), behavioral tests (grip strength, thermal preference, Von Frey), intraepidermal nerve fiber density (IENFD) counts, and sciatic nerve morphological analysis. Myelin protein expression was analyzed by Western blotting and immunohistochemistry.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both sexes developed MetS features, though males exhibited more pronounced hyperglycemia. HFD mice showed thermal hyperalgesia, reduced IENFD, and slowed NCVs, consistent with DPN. Morphological studies revealed sex-specific myelin thinning and structural abnormalities without significant axonal degeneration. In males, HFD was associated with reduced muscular strength, a decrease in myelin thickness of small-caliber axons, and an increase in the Peripheral Myelin Protein 2 (PMP2), a fatty acid chaperone. In females, although HFD led to myelin decompaction, it was not associated with muscle strength deficits or changes in myelin composition.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>HFD-induced MetS impairs Schwann cell function and peripheral nerve health in a sex-dependent manner. Myelin defects and PMP2 upregulation suggest that altered lipid metabolism contributes to neuropathy progression. These findings highlight Schwann cells as key mediators of MetS-associated peripheral neuropathy and underscore the need for sex-specific therapeutic strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144292700","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":"Variability in Conduction Block Definitions Affects the Sensitivity of Diagnostic Criteria for Multifocal Motor Neuropathy","authors":"Lucas Immich Gonçalves,&nbsp;Vera Bril","doi":"10.1111/jns.70034","DOIUrl":"https://doi.org/10.1111/jns.70034","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144273335","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":"Is Conduction Block Everything in Multifocal Motor Neuropathy?","authors":"Yusuf A. Rajabally,&nbsp;Chinar Osman,&nbsp;James K. L. Holt","doi":"10.1111/jns.70035","DOIUrl":"https://doi.org/10.1111/jns.70035","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144273336","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":"Abstract","authors":"","doi":"10.1111/jns.70028","DOIUrl":"https://doi.org/10.1111/jns.70028","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 S2","pages":"S3-S49"},"PeriodicalIF":3.9,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144237285","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":"A Case Series of Unilateral Peripheral Neuropathy","authors":"Caroline Kramarz,&nbsp;Marion Masingue,&nbsp;Françoise Bouhour,&nbsp;Christophe Vial,&nbsp;Philippe Latour,&nbsp;Christophe Vandendries,&nbsp;Thierry Maisonobe,&nbsp;Jan Coebergh,&nbsp;Julian Blake,&nbsp;Mary M. Reilly,&nbsp;Tanya Stojkovic,&nbsp;Alexander M. Rossor","doi":"10.1111/jns.70033","DOIUrl":"https://doi.org/10.1111/jns.70033","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Peripheral neuropathy may present with a variety of phenotypes depending on the pattern of weakness and sensory loss, the neurophysiological characteristics (axonal or demyelinating) and additional features such as involvement of the autonomic nervous system or the cranial nerves. The most common phenotype is a symmetrical length-dependent sensory and motor neuropathy. Other phenotypes include non-length-dependent forms such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) or a sensory neuronopathy or ganglionopathy. Asymmetric forms of neuropathy are mostly represented by mononeuritis multiplex and Lewis-Sumner syndrome or focal CIDP. Unilateral weakness or sensory loss respecting the midline is mainly due to pathology in the central nervous system and is unusual in peripheral neuropathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We evaluated the clinical and genetic features of three unrelated individuals with a peripheral neuropathy affecting one side of the body.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We describe three unrelated patients (two female and one male) with a slowly progressive peripheral neuropathy restricted to one side of the body. Each case is marked by onset in early childhood with the absence of a family history or a structural lesion of the central nervous system. Neurophysiology demonstrated an axonal type of neuropathy in two cases and conduction slowing supportive of a demyelinating neuropathy type in one. Genetic testing was performed in the three cases, specifically looking for variants in genes associated with Charcot-Marie-Tooth disease (CMT) but none were identified in DNA extracted from blood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>A unilateral, slowly progressive peripheral neuropathy is a rare phenomenon, and we propose the cause of this unusual phenotype to be due to a mosaic or chimeric form of Charcot-Marie-Tooth disease (CMT).</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144140758","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":"Validity and Responsiveness of Balance Measurements Using Posturography in Patients With Immune-Mediated Neuropathies","authors":"Milou R. Michael,&nbsp;Robin van Veen,&nbsp;Luuk Wieske,&nbsp;Ingemar S. J. Merkies,&nbsp;Ivo N. van Schaik,&nbsp;Filip Eftimov","doi":"10.1111/jns.70031","DOIUrl":"https://doi.org/10.1111/jns.70031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Validated objective measures for balance in immune mediated neuropathies are lacking. In this study, we investigated the clinimetric properties of posturography using a force platform, a quantitative assessment of postural control.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We assessed patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and IgM-related polyneuropathy (IgM-PNP) using sway parameters (path, area and amplitude) measured at multiple time points. Validity was investigated by assessing differences in sway path between patients with and without reported balance symptoms and by assessing correlations of sway path with (established) impairment measures related to balance, disability and quality of life (QoL). Responsiveness was assessed by means of an anchor-based approach, using a patient anchor and two disability scales.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 52 CIDP and 13 IgM-PNP patients. In CIDP, sway path was 25% longer in patients reporting balance symptoms relative to patients without balance symptoms (<i>p</i> = 0.03). There was excellent reliability between consecutive measurements in both CIDP and IgM-PNP. Moderate to good correlations were observed between sway path and an ataxia scale (CIDP: Spearman's <i>ρ</i> = 0.46, 95% CI: 0.2–0.69; IgM-PNP: Spearman's <i>ρ</i> = 0.72, 95% CI: 0.28–0.96) while correlations with related disability measures and QoL were poor. Changes in sway parameters over time were not consistently associated with changes in other outcome measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Posturography measurements showed poor validity and responsiveness. Therefore, despite excellent reliability, using a force platform in clinical practice or trials for immune-mediated neuropathies cannot be recommended.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70031","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144140396","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":"SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy","authors":"Byung Kwon Pi,&nbsp;Ah. Jin Lee,&nbsp;Soo Hyun Nam,&nbsp;Ki Wha Chung,&nbsp;Byung-Ok Choi","doi":"10.1111/jns.70030","DOIUrl":"https://doi.org/10.1111/jns.70030","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The <i>SLC5A6</i> gene encodes a transmembrane protein responsible for transporting biotin, pantothenic acid, and lipoic acid. Mutations in <i>SLC5A6</i> have shown a wide spectrum of clinical phenotypes, such as sodium-dependent multivitamin transporter deficiency (SMVTD), childhood-onset biotin-responsive peripheral motor neuropathy (COMNB), and mixed axonal and demyelinating sensory motor neuropathy. The purpose of this study was to identify pathogenic <i>SLC5A6</i> mutations in the Korean CMT cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study performed whole exome sequencing to identify the genetic cause for two independent patients with early onset axonal sensorimotor polyneuropathy and SMVTD. We also examined the therapeutic effects of multivitamin replenishment on a patient with <i>SLC5A6</i> mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified compound heterozygous variants of <i>SLC5A6</i> in two patients (p.Arg94X and p.Phe522Ser in patient 1; p.Cys443Tyr and p.Phe513_Lys515delinsLeu in patient 2). In patient 2, an oral regimen comprising biotin, lipoic acid, and pantothenic acid demonstrated significant therapeutic effects, including cessation of cyclic vomiting, resolution of skin lesions on the fingers, and improvements in muscle weakness affecting both the upper and lower extremities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study represents the first report of novel heterozygous <i>SLC5A6</i> mutations in patients with axonal CMT and SMVTD, expanding the phenotypic spectrum associated with <i>SLC5A6</i> mutations. Notably, we observed significant therapeutic effects from multivitamin treatment in a patient.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144100657","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":"Soleal Sling Syndrome: A Narrative Review","authors":"Laura Hilbig-Vlatten,&nbsp;Jennifer N. Grauberger,&nbsp;Toni F. Engmann,&nbsp;Lilly F. Stadelmeier,&nbsp;Raymond M. Dunn,&nbsp;Ross Mandeville,&nbsp;Jason H. Ko,&nbsp;Pierre D'Hemecourt,&nbsp;Sammy Dowlatshahi","doi":"10.1111/jns.70032","DOIUrl":"https://doi.org/10.1111/jns.70032","url":null,"abstract":"<div>\u0000 \u0000 <p>Soleal sling syndrome is a rare cause of lower extremity neuropathy due to compression of the proximal tibial nerve under the fibromuscular arch of the soleus muscle. It presents with plantar numbness/paresthesias, calf pain, and tenderness over the proximal calf. Chronic compression can lead to toe flexor weakness. This study reviews the clinical presentation, diagnostic workup, and treatment options for soleal sling syndrome. A query of the PubMed database up until August 30, 2022, was conducted to gather relevant clinical, anatomic, and radiographic findings. The literature review identified key features of soleal sling syndrome, highlighting the importance of considering it in patients with calf pain/tenderness and plantar foot neurosensory changes. Diagnosis typically relies on history and physical examination, often with a positive Tinel's sign, though imaging modalities show inconsistent utility. Soleal sling syndrome is underrecognized and overlaps with other syndromes. Radiological imaging modalities can rule out secondary causes of proximal tibial nerve compression but lack consistency for diagnosing idiopathic cases. Surgical decompression of the nerve, via a medial or posterior approach, is the definitive treatment for all causes of tibial nerve compression.</p>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144091953","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":"Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT","authors":"Rosemary Shy,&nbsp;Amanda Dragon,&nbsp;Shawna M. E. Feely,&nbsp;Gabrielle Donlevy,&nbsp;Kayla Cornett,&nbsp;Melissa Mandarakas,&nbsp;Tim Estilow,&nbsp;Joshua Burns,&nbsp;Michael E. Shy","doi":"10.1111/jns.70029","DOIUrl":"https://doi.org/10.1111/jns.70029","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The CMT Infant Scale (CMTInfS) enables evaluation of infants/toddlers in clinic. Our aim was to evaluate the feasibility, reliability, and validity of a virtual version of the CMTInfS (vCMTInfS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Children aged 55 months or less were evaluated either in clinic using CMTInfS or remotely via telemedicine using the vCMTInfS. A trained clinical evaluator remotely directed activities with assistance from the parent/caregiver. vCMTInfS scores were calculated using the CMTInfS calculator available at www.ClinicalOutcomeMeasures.org. Clinical evaluators also used the Brazelton Neonatal Behavior assessment scale to give insight into the behavior of the child during the exam.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Twenty children (10 males and 10 females) aged 6–55 months with confirmed or at risk for CMT were evaluated. The mean in person (IP) CMT Infant and Toddler Scale (CMTInfS) raw score (4.11, SD = 2.76) was not significantly different from the mean initial virtual (V1) CMTInfS raw score (3.78, SD = 2.59) using a two-tailed test (<i>t</i> = 1.000, <i>p</i> = 0.347). Differences between the first and second (V2) visits as well as between the IP and V2 visits were also nonsignificant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our data demonstrate that children aged 55 months or less can be effectively evaluated remotely using the vCMTInfS, which will expand the number of very young children who can be evaluated with rare forms of CMT.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70029","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144091895","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":"Correction to “Results From a Phase 1 Study Evaluating the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of ANX005, a C1q Inhibitor, in Patients With Guillain–Barré Syndrome”","authors":"","doi":"10.1111/jns.70024","DOIUrl":"https://doi.org/10.1111/jns.70024","url":null,"abstract":"<p>Q. D. Mohammad, Z. Islam, N., Papri, et al. “Results From a Phase 1 Study Evaluating the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of ANX005, a C1q Inhibitor, in Patients With Guillain–Barré Syndrome,” <i>Journal of the Peripheral Nervous System</i> 30 (2025): e70009. https://doi.org/10.1111/jns.70009</p><p>FIGURE 7 | Change in MRC from baseline for ANX005 and placebo (<i>N</i> = 26). MRC, Medical Research Council.</p><p>We apologize for this error.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144074633","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}