Journal of the Peripheral Nervous System最新文献

{"title":"Real-World Multinational Survey of Chronic Inflammatory Demyelinating Polyneuropathy: Disease Characteristics and Therapeutic Landscape","authors":"Luis Querol,&nbsp;Simon Rinaldi,&nbsp;Andras Borsi,&nbsp;Giorgio Maria Boggia,&nbsp;Jonathan de Courcy,&nbsp;Yasmin Taylor,&nbsp;Jack Wright,&nbsp;Wisam Karmous,&nbsp;Wim Noel,&nbsp;Charlotte Gary,&nbsp;Gerd Meyer zu Hörste","doi":"10.1111/jns.70047","DOIUrl":"https://doi.org/10.1111/jns.70047","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated syndrome characterized by progressive muscle weakness and sensory impairment. Clinical similarities with other neuropathies can cause misdiagnoses and delayed diagnoses. Additionally, a large proportion of patients appropriately treated according to current guidelines still show residual disability. This real-world study aimed to characterize a global cohort of patients with CIDP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data were drawn from the Adelphi CIDP Disease Specific Programme, a cross-sectional survey with retrospective data collection, conducted in China, France, Germany, Italy, Japan, Spain, the United Kingdom, and the United States between September 2022 and April 2023. Neurologists and neuromuscular specialists reported on patient demographic and clinical characteristics at the time of the survey. Patients self-reported treatment satisfaction, disease control, and health-related outcome measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 164 physicians provided data for 1056 patients, with 428 (40.5%) providing self-reported data. Patients were diagnosed with typical CIDP (69.2%) and variant CIDP (30.8%). Overall, initial misdiagnosis occurred in 37.2% of patients, with a median (interquartile range) diagnostic delay of 6.0 (3.0–12.0) months. Maintenance therapy was prescribed for 81.6% of patients, with corticosteroid use ranging from 25.7% in the United States to 80.0% in China. Some patients were dissatisfied by treatment outcomes (11.0%) and symptom control (12.2%). Overall, mean (SD) patient-reported scores were 62.1 (20.4) for I-RODS, 35.0 (11.1) for FACIT fatigue, and 0.662 (0.253) for EQ-5D-5L.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Diagnostic delay and misdiagnoses were common occurrences across typical CIDP and variant CIDP. Despite the use of guideline treatments, there were unmet needs and a continued disease burden for patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144869293","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":"Impact of Social Deprivation on Diagnosis, Management and Outcome of Chronic Inflammatory Demyelinating Polyneuropathy at a Tertiary UK Centre","authors":"Zeinab Rajabally,&nbsp;Mahmoud A. Mohamed,&nbsp;Lydia Spencer,&nbsp;Niraj Mistry,&nbsp;Yusuf A. Rajabally","doi":"10.1111/jns.70054","DOIUrl":"https://doi.org/10.1111/jns.70054","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Whether social deprivation may affect diagnosis, management, and outcomes of subjects with chronic inflammatory demyelinating polyneuropathy (CIDP) is unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective study of subjects with CIDP attending University Hospitals Birmingham, UK. Demographics, clinical characteristics, treatment data, post-treatment outcomes and Index of Multiple Deprivation 2019 were collected. Postcodes were categorised in local vs. non-local and travelling distances to the hospital were ascertained.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 155 consecutive subjects with CIDP. Mean age was 62.2 years (SD: 15.1). Male to female ratio was 1.67:1. One-hundred and eighteen subjects (76.1%) had typical CIDP. Greater pre-treatment disability was independently associated with greater social deprivation (<i>p</i> = 0.031) and longer pre-treatment disease duration (<i>p</i> = 0.001). Neither use of high-cost first-line therapies, nor immunosuppressant usage, were associated with social deprivation. Post-treatment outcomes were not associated with social deprivation. Greater social deprivation was independently associated with younger age (<i>p</i> = 0.002), having a local post-code (<i>p</i> = 0.001) and living closer to the hospital (<i>p</i> &lt; 0.001). Subjects from the two most socially deprived deciles were younger (<i>p</i> = 0.025) and more disabled pre-treatment (<i>p</i> = 0.028) than those from the two least deprived deciles. Significantly fewer tertiary referrals were received for the two most socially deprived deciles compared to the two least deprived deciles (9.9% vs. 31.3%; <i>p</i> = 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Despite a publicly funded healthcare system with universal access, social deprivation independently contributed to greater pre-treatment disability in subjects with CIDP in this UK cohort. Social deprivation did not impact on treatments administered and post-treatment outcomes but may have influenced tertiary referral decisions to our centre.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70054","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144832595","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":"Influence of Genomic Ancestry and Other Traditional Risk Factors on the Prevalence of Diabetic Peripheral Neuropathy in Admixed Individuals With Type 1 Diabetes in Brazil: A Pioneer Multicenter Study","authors":"Cejana Hamu Aguiar,&nbsp;Hermelinda Cordeiro Pedrosa,&nbsp;Lucianne Righeti Monteiro Tannus,&nbsp;Livia Leite Ferreira,&nbsp;Dayse Silva,&nbsp;Luís Cristóvão Porto,&nbsp;Carlos Antonio Negrato,&nbsp;Marilia Brito Gomes","doi":"10.1111/jns.70049","DOIUrl":"https://doi.org/10.1111/jns.70049","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>To assess the influence of genomic ancestry (GA) and other traditional risk factors on the prevalence of diabetic peripheral neuropathy (DPN) in admixed Brazilian individuals with type 1 diabetes (T1D).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional, multicenter, pioneer study was conducted in 14 public clinics in 10 Brazilian cities. From 1760 individuals, 1732 were included (98.4%), aged 29.9 ± 11.9 years, diabetes duration 15.4 ± 9.2 years, 968 females (55.9%), 939 (55.7%) self-reported as White. DPN was evaluated by the validated neuropathy disability score (NDS) and neuropathy symptoms score (NSS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of DPN was 14.8%. In hierarchical multivariate logistic regression, the covariates associated with DPN were age, diabetes duration, HbA1c, type of health care insurance, insulin therapeutic regimen, number of yearly clinical visits, low exercise practice rates, hypertension, dyslipidemia, heart rate, statin use, uric acid levels, lower health-related quality of life, presence of diabetic retinopathy, and amputations. Among the sociodemographic characteristics, African GA, a contemporary emerging factor, showed the highest association.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>DPN was related to several comorbidities, diabetes-related complications, and lower health-related quality of life. These individuals were young, implying a high lifetime cost of this disease. The association with the emerging factor African GA warrants further studies involving other admixed populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144832593","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":"Neurofilament Light Chain Levels in a Large Idiopathic Peripheral Neuropathy Cohort","authors":"Simone Thomas,&nbsp;Maaz Khan,&nbsp;Mehmet Can Sari,&nbsp;Xindan Hu,&nbsp;Alexandria Lewis,&nbsp;Jashandeep Lobana,&nbsp;Bipasha Mukherjee-Clavin,&nbsp;Abhay Moghekar,&nbsp;Brett M. Morrison,&nbsp;Charlotte Sumner,&nbsp;Samuel Xie,&nbsp;Ahmet Höke","doi":"10.1111/jns.70050","DOIUrl":"https://doi.org/10.1111/jns.70050","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neurofilament light chain (Nf-L) has been identified as a biomarker of neurodegeneration in many neuromuscular conditions, including several subtypes of polyneuropathies. The purpose of this research was to investigate whether Nf-L is also a promising biomarker for idiopathic peripheral neuropathy (IPN), the second most common subtype of axonal polyneuropathy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Nf-L levels were quantified using an ultrasensitive digital immunoassay SiMoA in plasma samples from 294 subjects. Participant inclusion required a diagnosis of IPN confirmed by electrodiagnostic testing, intraepidermal nerve fiber density (IENFD), and/or neuromuscular examination. Laboratory testing recommended by the American Academy of Neurology for the evaluation of polyneuropathy was normal in all subjects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In our cohort, the majority of participants (78.1%, <i>N</i> = 228) had Nf-L levels in the age-adjusted normal range. Those with elevated Nf-L levels had higher scores on two different neuropathy severity scores and were more likely to have abnormal electrodiagnostic testing, including reduced action potential amplitude in peroneal motor and sural sensory nerves. No differences in blood Nf-L levels were observed in those participants with a short duration (≤ 1.5 years) versus long duration (≥ 5 years) of disease. Nf-L levels were also not correlated with the presence of neuropathic pain, nor the location of paresthesia. Nf-L expression had the strongest correlation with age.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In this cohort with IPN, Nf-L levels correlated with disease severity as assessed by clinical examination and electrophysiology. However, given that Nf-L was in the normal range for the majority of subjects in our cohort, its use as a biomarker for clinical trials evaluating new treatments for IPN will be limited.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144832592","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":"The Correlation Between Functional and Morphometric Small Fiber Assessment in Mixed Etiology Polyneuropathy","authors":"Farah A. Ghadban,&nbsp;Charlotte N. Bay-Smidt,&nbsp;Asger Bjørnkær,&nbsp;Laura M. Gaist,&nbsp;Jakob V. Holbech,&nbsp;David Gaist,&nbsp;Martin Wirenfeldt,&nbsp;Søren H. Sindrup,&nbsp;Thomas Krøigård","doi":"10.1111/jns.70051","DOIUrl":"https://doi.org/10.1111/jns.70051","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Skin biopsies are the primary diagnostic test for small fiber neuropathy, but recently corneal confocal microscopy (CCM) has been developed as an alternative. We compared the correlations of each of these morphometric assessments with peripheral nerve function evaluated through comprehensive quantitative sensory testing (QST) in a mixed etiology polyneuropathy cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>CCM and skin biopsies were performed in a prospective cohort of unselected patients undergoing polyneuropathy diagnostic work-up. We used predefined criteria to identify patients with small or mixed fiber neuropathy. The correlations between corneal nerve fiber density (CNFD), fiber length (CNFL), branch density (CNBD), and tortuosity (CNFT) and the intraepidermal nerve fiber density (IENFD) at the distal leg and the results of QST at the foot were determined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two-hundred and forty-four patients were included in the analysis. CNFD was negligibly correlated with warm detection threshold (WDT) (<i>r</i> = −0.15; <i>p</i> = 0.023), while there was no statistically significant correlation with other QST measures. There were no statistically significant correlations between neither CNFL nor CNBD and any of the QST measures. CNFT correlated negligibly with WDT (<i>r</i> = 0.17; <i>p</i> = 0.008) and vibration detection threshold (VDT) (<i>r</i> = −0.13; <i>p</i> = 0.044). IENFD correlated moderately with WDT (<i>r</i> = −0.33; <i>p</i> &lt; 0.0001) and mechanical pain threshold (<i>r</i> = −0.37; <i>p</i> &lt; 0.0001) and weakly with cold detection threshold (<i>r</i> = 0.21; <i>p</i> = 0.0008), mechanical detection threshold (<i>r</i> = −0.21; <i>p</i> = 0.0008) and VDT (<i>r</i> = 0.23; <i>p</i> = 0.0004).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>IENFD correlated better with small and large fiber function at the foot than CCM measures in patients with mixed etiology polyneuropathy. Longitudinal studies are needed to assess the clinical utility for neuropathy progression.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814766","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":"Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases","authors":"Courtney L. Hatton,&nbsp;Markus Terrey,&nbsp;Maximiliano Presa,&nbsp;Jennifer Ryan,&nbsp;Sara Perkins,&nbsp;Vicki Kennedy,&nbsp;Cathleen M. Lutz,&nbsp;Robert W. Burgess","doi":"10.1111/jns.70052","DOIUrl":"https://doi.org/10.1111/jns.70052","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Degeneration of peripheral motor and sensory axons is a key aspect of the pathophysiology of Charcot–Marie–Tooth disease and related inherited neurodegenerative conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>Given that mutations in many (&gt; 100) genes can cause these disorders, it is unclear if a generalized therapeutic strategy can be identified that will apply across these disease subtypes; however, strategies to prevent or slow axon degeneration are attractive candidates. Wallerian axon degeneration is an active process following insults such as nerve injury, and SARM1 is a central mediator of this process. When SARM1 is inhibited, axons distal to the site of injury persist for weeks rather than degenerating. In addition, SARM1 inhibition or genetic deletion has been shown to provide benefit in acquired neuropathies such as diabetic/metabolic neuropathy and chemotherapy-induced neuropathy in animal models. Here we examined the effects of genetically deleting <i>Sarm1</i> in mouse models of CMT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We bred knockout mice lacking <i>Sarm1</i> to three different mouse models of CMT or related disorders. These include mice lacking <i>Gjb1</i>, modeling CMT1X, mice with mutations in <i>Kif1a</i>, modeling hereditary sensory neuropathy IIC and spastic paraplegia type 30, and mice lacking <i>Fig4</i>, modeling CMT4J and Yunis-Varon syndrome. Clinically relevant outcomes measures including survival (<i>Kif1a</i> and <i>Fig4</i>), grip strength and motor behavior, peripheral neurophysiology, molecular biomarkers, and nerve histopathology were assessed for each model with and without <i>Sarm1</i> expression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No improvement in the mutant phenotype was found for any model, although elevated levels of circulating neurofilament light chain levels were delayed in the <i>Fig4</i> mice. <i>Kif1a</i> mice showed deficits slightly earlier in the absence of <i>Sarm1</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>While we found no benefit from deleting <i>Sarm1</i> in these mouse models, they were chosen for their human disease relevance and not for biochemical indicators that SARM1 may be a good target. Thus, SARM1 inhibition may still be effective in other forms of inherited neuropathy, but additional research will be required to identify those candidate subtypes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144832713","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":"Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot–Marie–Tooth Disease","authors":"Farkhanda Qaiser,&nbsp;John McHugh,&nbsp;Gerard Mullins,&nbsp;Michael Farrell,&nbsp;Loai Shakerdi,&nbsp;James O. Byrne,&nbsp;Sinéad M. Murphy","doi":"10.1111/jns.70048","DOIUrl":"https://doi.org/10.1111/jns.70048","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Mitochondrial trifunctional protein deficiency (MTPD) is an inherited disorder of fatty acid β-oxidation caused by mutations in <i>HADHA</i> or <i>HADHB</i> genes. It typically presents with cardiomyopathy or hepatic failure in early childhood; however, it may rarely present in adulthood with the neuromyopathic form.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We describe a patient with MTPD with isolated neuropathy mimicking Charcot–Marie–Tooth disease (CMT) as the first and only presenting symptom. Clinical and electrophysiological examinations were conducted, including nerve conduction studies, needle electromyography, muscle and nerve biopsies. The diagnosis was confirmed with genetic testing and enzymatic analysis of cultured skin fibroblasts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We report a 40-year-old man diagnosed with axonal CMT2 in childhood. He had pes cavus and hammer toes, mild distal lower limb weakness, and loss of vibration sense with areflexia. He later developed fatigability, improved exercise tolerance with alcohol and an episode of chest infection causing neurological decompensation without evidence of rhabdomyolysis. Neurophysiology showed non-length-dependent axonal sensorimotor neuropathy without myopathic features. Genetic testing confirmed that he was compound heterozygous for two <i>HADHA</i> variants, one of them novel, and enzymatic analysis of cultured skin fibroblasts confirmed MTPD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>We report a very rare isolated neuropathic phenotype of MTPD and confirm the pathogenicity of the novel variant c.1003G&gt;A, p.(Glu335Lys). This case also highlights the need for <i>HADHA</i> and <i>HADHB</i> to be included in neuropathy gene panels as MTPD may present as CMT. Given that dietary management may prevent some complications of MTPD, achieving a diagnosis early is important.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814959","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":"Abstract","authors":"","doi":"10.1111/jns.70038","DOIUrl":"https://doi.org/10.1111/jns.70038","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 S3","pages":"S3-S263"},"PeriodicalIF":3.2,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144767769","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":"GDAP1-Related Charcot–Marie–Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?","authors":"Moez Ravanbod,&nbsp;Mahsa Mohammadi,&nbsp;Aida Ghasemi,&nbsp;Solmaz Jabbarzadeh,&nbsp;Ali Asghar Okhovat,&nbsp;Marzieh Khani,&nbsp;Elahe Elahi,&nbsp;Mahtab Ramezani,&nbsp;Shahriar Nafissi,&nbsp;Afagh Alavi","doi":"10.1111/jns.70046","DOIUrl":"https://doi.org/10.1111/jns.70046","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The <i>GDAP1</i> gene encodes a mitochondrial outer membrane protein crucial for mitochondrial function. Mutations in this gene are associated with different subtypes of Charcot–Marie-Tooth (CMT) disease, inherited in either an autosomal recessive or dominant manner. In this study, we discuss the clinical and genetic aspects of 11 unrelated Iranian <i>GDAP1</i>-related CMT families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The probands were selected from a large CMT cohort after whole exome sequencing (WES) analysis. 11 <i>GDAP1</i>-related CMT families–16 patients—were included in this study. Co-segregation analysis was performed to confirm the candidate variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, eight exonic variants in <i>GDAP1</i> were identified; two were novel. Among all known variants, a deep intronic variant, c.311-23A&gt;G, was found in two families. 11/16 patients were AR-CMT2K, three were CMT4A, and only two had AD-CMT2K.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Among our variants, two were more significant: c.311-23A&gt;G, which has only been documented in another Iranian family and may represent a founder mutation within our population, and c.347T&gt;G, which has exclusively been reported within the Italian population and is recognized as a founder mutation in that country. We found this variant in three unrelated families, suggesting that this variant is not confined to Italy and that codon 347 may be a hotspot codon. Our findings extend the clinical and genetic aspects of <i>GDAP1</i>-related CMT and emphasize the need to consider intronic variants in genetic analysis. Additionally, we highlight that AD-CMT2K has a milder phenotype than other <i>GDAP1</i>-related disease types, which could result in an underestimation of the number of AD-CMT2K cases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144705540","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 “Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes”","authors":"","doi":"10.1111/jns.70045","DOIUrl":"https://doi.org/10.1111/jns.70045","url":null,"abstract":"<p>E. Shumeri, E. Mandorah, N. Martini, A. Boyer, C. Halbert, A. Puma, A. Chaussenot, E. Delmont, K. N'guyen, S. Attarian, and N. Bonello-Palot, “Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes,” <i>Journal of the Peripheral Nervous System</i> 30, no. 3 (2025): e70044, https://doi.org/10.1111/jns.70044.</p><p>There was an error in the institutional affiliation listed for the second author, Dr. Ebrahem Mandorah. The affiliation was originally published as:</p><p>\u0000 <i>Faculty of Medicine and Faculty of Applied Medical Sciences, Jeddah University, Jeddah, Saudi Arabia</i>\u0000 </p><p>The correct affiliation should be:</p><p>\u0000 <i>Faculty of Medicine, Department of Basic Medical Sciences, University of Jeddah, Jeddah, Saudi Arabia</i>\u0000 </p><p>We apologize for this error.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"30 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.70045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144705538","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}