Journal of the Peripheral Nervous System最新文献

{"title":"Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot–Marie–Tooth Disease","authors":"Anthony Maino,&nbsp;Florence Hazane-Puch,&nbsp;Philippe Petiot,&nbsp;Nathalie Roux-Buisson,&nbsp;John Rendu,&nbsp;Julien Fauré,&nbsp;Gaëlle Hardy","doi":"10.1111/jns.70085","DOIUrl":"10.1111/jns.70085","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Variants in the myelin protein zero coding <i>MPZ</i> gene are responsible for a broad spectrum of peripheral demyelinating and axonal neuropathies, including different types of Charcot–Marie–Tooth diseases, challenging for genotype–phenotype correlation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Minigene splicing reporter assay was used to unveil the pathogenic mechanism of a novel <i>MPZ</i>(NM_000530.8) c.234 + 1G&gt;C p.(?) heterozygous splice variant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The variant was identified in a 47-year-old female patient presenting with atypical clinical features, including balance disturbance with positive Romberg, absent Achilles tendon reflexes, distal hypoesthesia and bulbar involvement, including dysarthria and dysphagia. Electromyography revealed a sensory-motor neuropathy with moderately reduced nerve conduction velocities. In silico analysis predicted this variant to disrupt the consensual donor splice site located in intron 2 of <i>MPZ</i>. Minigene construction confirmed the functional impact of this variant, revealing exon 2 skipping and the apparition of a premature termination codon.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This case expends the genotype–phenotype correlations of <i>MPZ</i>-related Charcot–Marie–Tooth diseases, associating atypical mild phenotype with a rare splice dominant variant, and provides new insights into <i>MPZ</i> haploinsufficiency and pathogenic mechanisms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12687107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708377","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":"Human Cytomegalovirus Associated Neuropathies: A Comprehensive Review From Pathophysiology to Clinical and Therapeutic Considerations","authors":"Naomi Behanan,&nbsp;Sarab Mohamed,&nbsp;Rhona Chen,&nbsp;Gloria Mak,&nbsp;Jian-Qiang Lu","doi":"10.1111/jns.70087","DOIUrl":"10.1111/jns.70087","url":null,"abstract":"<p>Human cytomegalovirus (HCMV) is a neurotropic, double-stranded DNA virus from the Herpesviridae family. It has a large genome, infects the majority of populations, and typically causes asymptomatic infections in healthy individuals. After the initial infection with established lifelong latency, HCMV can reactivate and cause disorders including neuropathies. Besides the infections typically in immunocompromised patients, HCMV may also trigger autoimmunity leading to tissue injury and associated pathologies. HCMV-associated neuropathies are a pathogenically heterogeneous group of peripheral nervous system (PNS) disorders that include direct HCMV infection of the nerve(s), as well as non-infectious associated neuropathies such as axonal or degenerative, vasculitic/ischemic or necrotizing, inflammatory demyelinating, and immune-mediated forms. Congenital HCMV-associated neuropathies primarily involve the cochlear/auditory and optic nerves with somewhat distinct pathogenic mechanisms compared with their postnatal counterparts, largely due to the immaturity of the fetal immune system. This article reviews the pathophysiology of PNS involvement in HCMV infection, followed by congenital HCMV-associated neuropathies with a case demonstration, and various postnatal HCMV-associated neuropathies, including a detailed review of HCMV-associated optic neuropathies, from pathogenic mechanisms to clinical and therapeutic implications. As the PNS has a few immune protective mechanisms against pathogens, direct HCMV infection of nerves is rare and occurs only in immunocompromised patients; most HCMV-associated neuropathies are secondary with multiple pathogenic mechanisms including varying degrees of autoimmunity. While the clinical manifestations of HCMV-associated neuropathies are variable, their treatment is typically empirical and case-based, focusing on antiviral therapy often combined with immunomodulatory approaches. Prompt and appropriate management can improve outcomes of HCMV-associated neuropathies.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12686851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Retinopathy–Sensory Neuropathy Syndrome With a Novel Compound Heterozygous FLVCR1 Variant","authors":"Yumiko Nakano,&nbsp;Yusuke Fukui,&nbsp;Kentaro Deguchi,&nbsp;Chika Matsuoka,&nbsp;Tomohito Kawano,&nbsp;Yuki Taira,&nbsp;Ayaka Matsuo,&nbsp;Yosuke Osakada,&nbsp;Taijun Yunoki,&nbsp;Emi Nomura,&nbsp;Mami Takemoto,&nbsp;Ryuta Morihara,&nbsp;Toru Yamashita,&nbsp;Hiroyuki Ishiura","doi":"10.1111/jns.70082","DOIUrl":"10.1111/jns.70082","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Retinopathy–sensory neuropathy syndrome (RETSNS), also known as posterior column ataxia with retinitis pigmentosa (PCARP), is a rare neurodegenerative disorder that is caused by biallelic pathogenic variants in <i>FLVCR1</i>. Here, we report a case of a Japanese patient with RETSNS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Clinical, neuroradiological, and electrophysiological findings were documented. Whole-genome sequencing was performed. Subcloning was carried out to confirm compound heterozygosity. A functional assay was performed to assess the pathogenicity of the variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patient showed retinitis pigmentosa and sensory ataxia. Over the course of the disease, autonomic dysfunction has become increasingly evident. Despite consanguinity in the family, whole-genome sequencing identified two heterozygous variants in <i>FLVCR1</i> (c.369T&gt;G, p.Phe123Leu and c.733A&gt;G, p.Asn245Asp). Cloning of the PCR product followed by Sanger sequencing indicated compound heterozygosity of the variants. Immunocytochemistry of HEK293FT cells transfected with plasmids containing wild-type or variant FLVCR1 cDNA demonstrated altered subcellular localization of the variant FLVCR1 proteins, characterized by reduced membrane localization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>We report a novel variant in <i>FLVCR1</i> causing RETSNS. The functional assay supports the pathogenicity of the variants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654742","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":"ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome","authors":"Saif Haddad,&nbsp;Roy Poh,&nbsp;Jason Hehir,&nbsp;James M. Polke,&nbsp;Julian Blake,&nbsp;Mary M. Reilly","doi":"10.1111/jns.70083","DOIUrl":"10.1111/jns.70083","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction. Isolated inherited SAN are rare, and the causes are limited, including <i>RFC1</i> expansions (CANVAS), <i>POLG</i> variants and variants in <i>COX20</i> and <i>RNF170</i>. Spinocerebellar ataxia type 15 (SCA15), caused by deletions in the ITPR1 gene, is another potential genetic cause of SAN, as peripheral neuropathy is commonly associated with various spinocerebellar ataxias.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A 35-year-old female who presented with an asymmetrical upper limb predominant sensory ataxic neuropathy which had initially been treated as a vasculitic neuropathy at her local hospital, underwent further evaluation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Genetic analysis identified an approximately 6.5 Mb terminal deletion of chromosome 3p, including the <i>ITPR1</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This case report adds to the growing body of literature on ITPR1-related diseases, highlighting the phenotypic variability of ITPR1 and identifying it as a potential cause of isolated SAN. While a connection to Sjögren's syndrome cannot be excluded, the role of <i>ITPR1</i> as the primary cause remains the focus. We propose that the neuropathy community consider screening SAN patients for <i>ITPR1</i> deletions, as additional cases may help clarify its clinical significance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12668824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654727","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":"Rethinking Neuropathy in TTC19 Mutations: The Need for Broader Differential Diagnosis","authors":"Christian Messina","doi":"10.1111/jns.70074","DOIUrl":"10.1111/jns.70074","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145604829","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 “The Correlation Between Functional and Morphometric Small Fiber Assessment in Mixed Etiology Polyneuropathy”","authors":"","doi":"10.1111/jns.70080","DOIUrl":"10.1111/jns.70080","url":null,"abstract":"<p>F. A. Ghadban, C. N. Bay-Smidt, A. Bjørnkær, et al., “The Correlation Between Functional and Morphometric Small Fiber Assessment in Mixed Etiology Polyneuropathy,” <i>Journal of the Peripheral Nervous System</i> 30, no. 3 (2025): e70051, https://doi.org/10.1111/jns.70051.</p><p>It has come to our attention that there was an error in the results section. Two patients had a warm detection threshold (WDT) of approximately 15, which is not possible as the range of this variable is 32–50. After reviewing our data, we also found that 17 patients had a WDT of 50.5 or 51, while the upper limit is 50. We have corrected the errors and re-analyzed the affected correlations as shown in Figures 1-3 and Tables 1–5 and Table S1.</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":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70080","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145604771","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":"Intravenous Efgartigimod or Intravenous Immunoglobulin in Guillain-Barre Syndrome: An Observational Multicenter Study","authors":"Heting Cai,&nbsp;Fan Zhou,&nbsp;Tao Li,&nbsp;Zhijun Li,&nbsp;Jianfeng Luo,&nbsp;Jianian Hu,&nbsp;Min Deng,&nbsp;Chong Sun,&nbsp;Chongbo Zhao,&nbsp;Jie Lin","doi":"10.1111/jns.70072","DOIUrl":"10.1111/jns.70072","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Guillain-Barré syndrome (GBS) is an acute autoimmune polyradiculoneuropathy characterized by progressive flaccid paralysis. The standard treatments include intravenous immunoglobulin (IVIg) and plasma exchange (PE), with limited accessibility to these treatments. Efgartigimod is an FcRn antagonist that reduces IgG levels, similar to PE, serving as a potential alternative. This study aims to compare the efficacy of Efgartigimod with standard IVIg in GBS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a multicenter observational study in China. Eligible participants were aged ≥ 16 years, meeting the diagnostic criteria for GBS, and presented with a GBS Disability Scale score ≤ 5 at baseline assessment. Participants received efgartigimod (10 mg/kg per week up to 4 doses) or IVIg (2 g/kg once). Outcomes were assessed at baseline, week 1, and week 2 post-treatment, and at the last follow-up. The primary efficacy endpoint was the proportion of participants improving at least 1 point on the GBS-DS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Between January and October 2024, 22 GBS patients were enrolled, including 11 in each group. At week 1, 14 patients improved in GBS-DS, with 7 (63.6%) in the efgartigimod group and 7 (63.6%) in the IVIg group. Median time to improvement was 4 days in the efgartigimod group and 8 days in the IVIg group. At week 2, GBS-DS response rates were 90.9% (10/11) for efgartigimod and 81.8% (9/11) for IVIg.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Based on our preliminary findings, intravenous efgartigimod may be potentially tolerated in GBS over the short term. However, this study cannot establish comparative efficacy given the methodological limitations, and large-scale well-controlled head-to-head trials remain imperative.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145596582","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":"Peter James Dyck: In Memoriam","authors":"P. James B. Dyck,&nbsp;William J. Litchy","doi":"10.1111/jns.70073","DOIUrl":"https://doi.org/10.1111/jns.70073","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145580980","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":"Frequent De Novo Mutations in Korean Patients With Charcot–Marie–Tooth Disease","authors":"Ah Jin Lee,&nbsp;Soo Hyun Nam,&nbsp;Sinyeong Lee,&nbsp;Su Min Lee,&nbsp;Kyung Suk Lee,&nbsp;Byung-Ok Choi,&nbsp;Ki Wha Chung","doi":"10.1111/jns.70081","DOIUrl":"10.1111/jns.70081","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>De novo mutations provide a fundamental source of gene pool changes, driving genomic microevolution. Charcot–Marie–Tooth disease (CMT), which is a group of genetically and clinically heterogeneous peripheral neuropathic disorders, is characterized by progressive muscle weakness, hand and foot deformities, and occasional involvement of other organs. This study conducted the first cohort study of de novo mutations in CMT patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>De novo mutations were examined in 151 genetically diagnosed father–mother–child trio autosomal dominant CMT families except for CMT1A.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 49 de novo point or small indel mutations in 61 patients. The frequency of de novo mutations was 40.4%, with gene-specific rates in their distribution. Haplotype analysis revealed predominant paternal origin, consistent with previous reports for CMT1A. Frequent substitutions at highly methylated CpG sites suggested that CpG methylation strongly contributes to the induction of de novo mutations. In particular, this study observed an anticipation of earlier onset in the affected children compared to their parents (founders) with de novo mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study reports de novo mutations that occur frequently in CMT families. Characterization of de novo pathogenic mutations is expected to provide valuable insights not only into the genetic diagnosis and treatment of rare genetic diseases, but also into the evolutionary genomic study of deleterious alleles.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 4","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145549825","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":"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}