Journal of the Peripheral Nervous System最新文献

{"title":"Effect of Rituximab on Neurofilament Levels in CIDP: Results From the CIDPRIT Randomized Trial","authors":"Pietro Emiliano Doneddu,&nbsp;Roger Collet-Vidiella,&nbsp;Chiara Gallo,&nbsp;Dario Cocito,&nbsp;Fiore Manganelli,&nbsp;Yuri Falzone,&nbsp;Eleonora Dalla Bella,&nbsp;Luana Benedetti,&nbsp;Anna Mazzeo,&nbsp;Erdita Peci,&nbsp;Emanuele Spina,&nbsp;Camilla Strano,&nbsp;Francesco Germano,&nbsp;Luca Gentile,&nbsp;Giuseppe Liberatore,&nbsp;Claudia Cutellè,&nbsp;Elisa Bianchi,&nbsp;Luis Querol,&nbsp;Eduardo Nobile-Orazio","doi":"10.1111/jns.70107","DOIUrl":"10.1111/jns.70107","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Rituximab has been proposed as a potential treatment in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but formal evidence regarding its clinical effectiveness is weak. The CIDPRIT trial found no clinical benefit in comparison with placebo, but secondary analyses suggested some beneficial effect. Analysis of serum neurofilament light chain (sNfL) may provide evidence to support rituximab's effect on CIDP patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a post hoc analysis of sNfL levels from the CIDPRIT trial participants. Blood samples were collected at baseline, month 6, and 12. sNfL was measured using Simoa technology. Geometric means and z-scores were compared across groups. Linear mixed-effects models and survival analyses were used to evaluate treatment effects and clinical correlations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>33 participants were included (18 rituximab, 15 placebo). Baseline sNfL was significantly higher in the rituximab group (11.51 vs. 6.67 pg/mL, <i>p</i> = 0.019). While between-group differences over time were not statistically significant, rituximab-treated patients showed stable sNfL levels at month 6 and a slight decrease at month 12, contrasting with modest increases in the placebo group. Among rituximab-treated patients who remained clinically stable at month 12, sNfL showed a non-significant decline by 31%. No significant associations were found between baseline sNfL and clinical worsening. NfL levels correlated with neurophysiological parameters of axonal damage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The analysis did not demonstrate biomarker-based evidence of rituximab efficacy in CIDP. However, observed trends suggest a possible biological effect in reducing axonal injury in a subset of patients. Further studies are needed to clarify the role of sNfL in treatment monitoring and patient stratification.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125392","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":"Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy","authors":"Valentin Loser,&nbsp;Pascal Benkert,&nbsp;Alex Vicino,&nbsp;Nicolas Ghika,&nbsp;Pansy Lim Dubois Ferrière,&nbsp;Chantal Daigneault,&nbsp;Thierry Kuntzer,&nbsp;Aleksandra Maleska Maceski,&nbsp;Jens Kuhle,&nbsp;Marie Théaudin","doi":"10.1111/jns.70104","DOIUrl":"10.1111/jns.70104","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>In individuals with hereditary transthyretin amyloidosis (ATTRv) polyneuropathy, monitoring of disease progression and treatment response is crucial. The objective is to determine if serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) are reliable biomarkers of ATTRv polyneuropathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We included 48 ATTRv individuals (38 symptomatic, 10 asymptomatic). Yearly assessments (over 4 years) included a full clinical examination with disease severity and functional scores, electrochemical skin conductance, nerve conduction studies, and measurement of sNfL and sGFAP levels. Using a reference database, sNfL and sGFAP were converted to <i>Z</i>-scores (zNfL and zGFAP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median zNfL was −0.50 in asymptomatic, 1.44 in converters, and 2.46 in symptomatic subjects. zNfL &gt; 1.42 discriminated symptomatic from asymptomatic subjects (AUC 0.936), not zGFAP (AUC 0.588). zNfL, not zGFAP, correlated with most clinical and electrophysiological neuropathy severity scales. Two asymptomatic carriers became symptomatic during follow-up. In one of them, a significant rise in zNfL occurred 1 year before symptomatic transition.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>In ATTRv, zNfL correlates with neuropathy severity and symptomatic transition. A zNfL &gt; 1.42 may discriminate symptomatic from asymptomatic subjects. zGFAP is not a reliable biomarker of polyneuropathy in ATTRv. Routine use of NfL should be based on deviation measure such as <i>Z</i>-score.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70104","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119173","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":"Pachymeningeal Involvement in POEMS Syndrome: Longitudinal Follow-Up Study and Correlation With Therapeutic Response","authors":"Chiara Briani,&nbsp;Luca Massarotti,&nbsp;Antonio Branca,&nbsp;Marco Rossato,&nbsp;Tamara Berno,&nbsp;Andrea Visentin,&nbsp;Francesca Castellani,&nbsp;Chiara Dalla Torre,&nbsp;Marta Lucchetta,&nbsp;Tiziana Rosso,&nbsp;Alessandro Burlina,&nbsp;Giovanni Librizzi,&nbsp;Claudio Pagano,&nbsp;Manuele Marasca,&nbsp;Fabrizio Vianello,&nbsp;Renato Zambello,&nbsp;Livio Trentin,&nbsp;Alessandro Salvalaggio,&nbsp;Renzo Manara","doi":"10.1111/jns.70098","DOIUrl":"10.1111/jns.70098","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Brain pachymeningeal thickening (PT) is common in POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes) syndrome. Objective of our study was to assess PT changes in POEMS and correlation with hematologic and neurological response.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a longitudinal brain MRI study on 18 POEMS patients. Inflammatory Neuropathy Cause and Treatment (INCAT) disability score assessed neurological impairment. Hematologic response was defined based on accepted criteria. Neurological and hematologic evaluations were performed the same week as brain MRI.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median disease duration at first MRI was 2 months (range 0–42). Median follow-up between first and last MRI was 44 months (range 3–167). At first MRI, 17/18 patients displayed PT. Twelve patients received bortezomib, 10 lenalidomide, 6 autologous stem-cell transplantation, 3 had ≥ 3 lines of therapy. The overall hematologic response was 72% with 44% achieving complete response. PT remained stable in 10 patients while decreased in 7 patients: all hematologically improved, 83% also neurologically improved. Among the 13 patients with hematologic improvement, 61% showed PT reduction. Among the 8 patients with neurological improvement, 63% displayed PT decrease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>PT is a common feature in POEMS syndrome and may support diagnosis. However, its evolution does not reliably reflect treatment response, limiting its use as a monitoring biomarker.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146041271","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":"Incidence of Guillain–Barré Syndrome in Chile: A Population-Based Study Between 2013 and 2022","authors":"Rayén Galiá-Llaña,&nbsp;Danilo Ronda-Rojas,&nbsp;Amelia del Solar-Benavides,&nbsp;Matías Otto-Yáñez,&nbsp;Rodrigo Torres-Castro,&nbsp;Roberto Vera-Uribe,&nbsp;Guilherme Fregonezi,&nbsp;Gonzalo Rivera-Lillo","doi":"10.1111/jns.70103","DOIUrl":"10.1111/jns.70103","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Guillain–Barré syndrome (GBS) is the leading cause of acute flaccid paralysis. A Chilean study for 2001–2012 reported an age-standardized incidence of 2.10 per 100 000. We updated nationwide GBS incidence for 2013–2022 by sex, age, and macrozone.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective, population-based analysis of the Chilean Department of Statistics and Health Information (DEIS) hospital-discharge database. Cases were identified with the ICD-10 code G61.0 and deduplicated. Incidence rates (IRs) per 100 000, using official mid-year populations, were age-standardized to the World Health Organization standard and stratified by sex, 10-year age groups, and five macrozones.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 5096 discharges. The period crude IR was 2.73, and the age-standardized IR was 2.60 per 100 000. Annual standardized IRs ranged from 3.15 (2013) to 2.03 (2020). Men comprised 58.6% of cases; period IRs were 3.25 in males versus 2.34 in females. Age-specific IRs rose from 2.47 at 0–9 years to 5.76 at 70–79, then declined (3.63 at 80–89; 1.04 at ≥ 90). Regionally, IRs were lowest in the Far North (1.86) and North (2.26), intermediate in the Central zone (2.51), and highest in the South (4.55) and Far South (4.86).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>In 2013–2022, Chile's GBS incidence remained high by international standards and higher than in 2001–2012, with persistent male predominance, a peak among older adults, and a southward gradient. These updated background rates inform service planning, surveillance, and vaccine-safety assessment, and support integrated epidemiologic–microbiologic studies across macrozones.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146041244","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":"Cytokine Dynamics in Bortezomib-Induced Peripheral Neuropathy: Challenges in Translating Preclinical Findings to Humans","authors":"Nadine Cebulla,&nbsp;Daniel Schirmer,&nbsp;Eva Runau,&nbsp;Leon Flamm,&nbsp;Calvin Terhorst,&nbsp;Laura Jähnel,&nbsp;Johanna Güse,&nbsp;Nicola Giordani,&nbsp;Annett Wieser,&nbsp;Felicitas Schoch,&nbsp;Marie-Luise Reinle,&nbsp;Sonja Gommersbach,&nbsp;Aikaterini Papagianni,&nbsp;Xiang Zhou,&nbsp;Hermann Einsele,&nbsp;Ann-Kristin Reinhold,&nbsp;Heike Rittner,&nbsp;K. Martin Kortüm,&nbsp;Claudia Sommer","doi":"10.1111/jns.70090","DOIUrl":"10.1111/jns.70090","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Bortezomib-induced peripheral neuropathy (BIPN) remains a common treatment side effect in patients with multiple myeloma (MM). Data from rodent models indicate a role of proinflammatory cytokines in BIPN pathophysiology, making them potential therapeutic targets. We therefore tested cytokine levels throughout the course of BIPN in a cohort of MM patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed an interim analysis of a monocentric, non-randomized, observational study including 113 patients with MM. Three groups of patients—within their first cycle of BTZ treatment (FC), with ongoing BTZ treatment at the time of recruiting (OT), and with BTZ treatment in the past (PT)—were compared to controls. Sixteen FC patients were followed up for a median of 6 months. Serum TNF-α, IL-6, and CCL2, the cytokines most often implied in the animal models, were analyzed via the ELLA device.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CCL2 levels were not different among our patient groups or in comparison with healthy controls. Compared to healthy controls, the FC group had the highest IL-6 levels, followed by the PT and then the OT group. The FC group also had higher TNF-α levels compared to all other groups. Six months after inclusion, patients showed a decrease in TNF-α levels compared to their baseline. There was no correlation between TNF-α levels and neuropathy severity or impairment in daily life.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Factors related to MM may influence systemic cytokine levels in BIPN patients, limiting conclusions on their role in BIPN pathophysiology and their utility as drug targets.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"31 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146041255","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":"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}