Journal of the Peripheral Nervous System最新文献

{"title":"Glucose-lowering medication associated with weight loss may limit the progression of diabetic neuropathy in type 2 diabetes","authors":"Georgios Ponirakis,&nbsp;Ibrahim Al-Janahi,&nbsp;Einas Elgassim,&nbsp;Rawan Hussein,&nbsp;Ioannis N. Petropoulos,&nbsp;Hoda Gad,&nbsp;Adnan Khan,&nbsp;Hadeel B. Zaghloul,&nbsp;Mashhood A. Siddique,&nbsp;Hamda Ali,&nbsp;Fatima F. S. Mohamed,&nbsp;Lina H. M. Ahmed,&nbsp;Youssra Dakroury,&nbsp;Abeer M. M. El Shewehy,&nbsp;Ruba Saeid,&nbsp;Fadwa Mahjoub,&nbsp;Shaikha N. Al-Thani,&nbsp;Farheen Ahmed,&nbsp;Moayad Homssi,&nbsp;Salah Mahmoud,&nbsp;Nebras H. Hadid,&nbsp;Aisha Al Obaidan,&nbsp;Iuliia Salivon,&nbsp;Ziyad R. Mahfoud,&nbsp;Mahmoud A. Zirie,&nbsp;Yousuf Al-Ansari,&nbsp;Stephen L. Atkin,&nbsp;Rayaz A. Malik","doi":"10.1111/jns.12664","DOIUrl":"10.1111/jns.12664","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Obesity is a major risk factor for diabetic peripheral neuropathy (DPN) in type 2 diabetes (T2D). This study investigated the effect of glucose lowering medication associated with weight change on DPN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants with T2D were grouped based on whether their glucose lowering medications were associated with weight gain (WG) or weight loss (WL). They underwent clinical, metabolic testing and assessment of neuropathic symptoms, vibration perception threshold (VPT), sudomotor function and corneal confocal microscopy (CCM) at baseline and follow-up between 4 and 7 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 76 participants, 69.7% were on glucose lowering medication associated with WG, and 30.3% were on glucose lowering medication associated with WL. At baseline, participants in the WG group had a significantly longer duration of diabetes (<i>p</i> &lt; .01), higher douleur neuropathique en 4 (DN4) score (<i>p</i> &lt; .0001) and VPT (<i>p</i> = .01) compared with those in the WL group. Over a 56-month period, participants in the WG group showed no significant change in body weight (<i>p</i> = .11), HbA1c (<i>p</i> = .18), triglycerides (<i>p</i> = .42), DN4 (<i>p</i> = .11), VPT (<i>p</i> = .15) or Sudoscan (<i>p</i> = .43), but showed a decline in corneal nerve fiber density (CNFD), corneal nerve branch density (CNBD) and corneal nerve fiber length (CNFL) (<i>p</i> &lt; .0001). Participants in the WL group showed a reduction in weight (<i>p</i> = .01) and triglycerides (<i>p</i> &lt; .05), no change in DN4 (<i>p</i> = .30), VPT (<i>p</i> = .31) or Sudoscan (<i>p</i> = .17) and a decline in the corneal nerve branch density (<i>p</i> &lt; .01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Participants treated with glucose lowering medication associated with weight gain had worse neuropathy and greater loss of corneal nerves during follow-up, compared to patients treated with medication associated with weight loss.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"406-414"},"PeriodicalIF":3.9,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502916","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":"Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report","authors":"Julian Theuriet,&nbsp;Mathieu Gerfaud-Valentin,&nbsp;Cécile-Audrey Durel,&nbsp;Laurent Gouya,&nbsp;Antoine Pegat","doi":"10.1111/jns.12668","DOIUrl":"10.1111/jns.12668","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Porphyrias are inherited metabolic disorders caused by mutations in genes encoding enzymes involved in the heme biosynthetic pathway, leading to the accumulation of heme precursors. Acute hepatic porphyrias (AHP), including acute intermittent porphyria (AIP), can present with predominant peripheral neurological manifestations, often leading to a misdiagnosis as Guillain-Barré syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We report a case of AIP initially presenting as a peripheral neuropathy mimicking Parsonage-Turner syndrome (neuralgic amyotrophy, NA). Clinical and electrophysiological evaluations were conducted, including nerve conduction studies and needle electromyography (EMG).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A 41-year-old woman presented with burning pain and electric shock-like sensations in the shoulders and trunk, alongside asymmetrical motor weakness in the upper limbs affecting arm abduction and finger extension. Electrophysiological evaluation revealed involvement of the superior trunk of the brachial plexus and the posterior interosseous nerve. Initially diagnosed with NA, she showed significant improvement in proximal strength over nine months but relapsed at fourteen months with severe finger extension weakness. Concurrent severe abdominal pain with constipation led to the identification of elevated urinary porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) levels, confirming AHP and specifically AIP via genetic and biochemical testing. The patient received hemin and givosiran infusions, resulting in decreased ALA levels, improvement of motor weakness, and no further attacks.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This case underscores the need to consider AIP in the differential diagnosis of acute neuropathies like NA, especially when accompanied by abdominal pain and severe constipation. Early recognition and appropriate testing for PBG and ALA can prevent misdiagnosis and enable targeted treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"567-569"},"PeriodicalIF":3.9,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142468722","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":"Reply to “Nerve ultrasound as a screening tool for inherited sensory neuronopathy”","authors":"Alessandro Salvalaggio,&nbsp;Mario Cacciavillani,&nbsp;Benedetta Tierro,&nbsp;Chiara Briani","doi":"10.1111/jns.12666","DOIUrl":"10.1111/jns.12666","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"572-573"},"PeriodicalIF":3.9,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142468724","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":"Nerve ultrasound as a screening tool for inherited sensory neuronopathy","authors":"Luciana Pelosi,&nbsp;Richard Roxburgh","doi":"10.1111/jns.12665","DOIUrl":"10.1111/jns.12665","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"570-571"},"PeriodicalIF":3.9,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142468721","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 NCX1 calcium exchanger is implicated in delayed axotomy after peripheral nerve stretch injury","authors":"Bradley Wilhelmy,&nbsp;Volodymyr Gerzanich,&nbsp;J. Marc Simard,&nbsp;Jesse A. Stokum","doi":"10.1111/jns.12663","DOIUrl":"10.1111/jns.12663","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>After peripheral nerve stretch injury, most degenerating axons are thought to become disconnected at the time of injury, referred to as primary axotomy. The possibility of secondary axotomy—a delayed and potentially reversible form of disconnection—has not been evaluated. Here, we investigated secondary axotomy in a rat model of sciatic nerve stretch injury. We also evaluated whether axon sparing and functional improvement results from pharmacological blockade of the sodium-calcium exchanger 1 (NCX1), which is widely believed to contribute to traumatic axon degeneration but was previously only investigated in vitro.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We studied peripheral nerve secondary axotomy in a clinically relevant rat model of sciatic nerve rapid stretch injury with immunolabeling and fluorescence microscopy. The role of NCX1 in secondary axotomy was studied with pharmacological inhibition with SEA0400 and immunolabeling, immunoblot, and behavioral assays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found that early after injury, many axons remained in-continuity and that degeneration of axons was delayed, consistent with the occurrence of secondary axotomy. βAPP, a marker of secondary axotomy, accumulated at regions of axon swelling and disconnection, and NCX1 was upregulated and co-localized to βAPP axonal swellings. Pharmacological blockade of NCX1 after injury reduced calpain activation, proteolytic degradation of neurofilaments, βAPP accumulation, distal axon degeneration, and improved hindlimb function.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our data demonstrate a major role for secondary axotomy in peripheral nerve stretch injury and identify NCX1 as a promising therapeutic target to reduce secondary axotomy and improve functional outcome after nerve injury.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"555-566"},"PeriodicalIF":3.9,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142468725","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":"Patient-reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study","authors":"T. Rehbein,&nbsp;J. Purks,&nbsp;N. Dilek,&nbsp;S. Behrens-Spraggins,&nbsp;J. E. Sowden,&nbsp;K. J. Eichinger,&nbsp;the ACT-CMT Study Group,&nbsp;J. Burns,&nbsp;D. Pareyson,&nbsp;S. S. Scherer,&nbsp;M. M. Reilly,&nbsp;M. E. Shy,&nbsp;M. P. McDermott,&nbsp;C. R. Heatwole,&nbsp;D. N. Herrmann","doi":"10.1111/jns.12662","DOIUrl":"10.1111/jns.12662","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The Charcot–Marie–Tooth Disease Health Index (CMT-HI) is a disease-specific, patient-reported disease burden measure. As part of an international clinical trial readiness study, individuals with CMT1A (ages 18–75 years) underwent clinical outcome assessments (COAs), including the CMT-HI, to capture their longitudinal perspective on the disease burden.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two hundred and fifteen participants underwent serial COAs including the CMT-HI, CMT Functional Outcome Measure (CMT-FOM), CMT Neuropathy Score (CMTNSv2R), and CMT Exam Score (CMTES/CMTES-R). Correlations between the total and subscale scores for the CMT-HI and other COAs were determined. Changes in the CMT-HI scores over 12 months were assessed using paired <i>t</i>-tests. The minimum clinically important difference (MCID) for the CMT-HI and its subscales were calculated by anchoring to a participant global impression of change scale.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At baseline, CMT1A participants were 44.5 ± 15 years old (range: 18–75) and 58% were women. The mean CMT-HI was 25.7 ± 18.8 (range: 0–91.9; 100 reflecting maximal disease burden). The CMT-HI correlated with the CMT-FOM (<i>r</i> = .54, <i>p</i> &lt; .0001), CMTNSv2R (<i>r</i> = .48, <i>p</i> &lt; .0001), and CMTES/CMTES-R (<i>r</i> = .52/<i>r</i> = .54, <i>p</i> &lt; .0001). Disease burden was greater in women than in men (CMT-HI 29.1 ± 19.1 vs. 21.2 ± 17.3, <i>p</i> = .001). Over 12 months, there was a nonsignificant mean increase in CMT-HI of 0.40 ± 10.0 (<i>n</i> = 189, <i>p</i> = .89). The MCID for the CMT-HI total score was 3.8 points (95% CI: 1.7–5.9).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Patient-reported disease burden in CMT1A as measured by the CMT-HI is associated with measures of neurologic impairment and physical functioning. Women reported a higher disease burden than men. These data will inform the design of clinical trials in CMT1A.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"487-493"},"PeriodicalIF":3.9,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400611","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":"Association of dynamic hepatic metabolism with clinical outcomes in patients with severe Guillain-Barré syndrome: A prospective cohort study from multi-centers in China","authors":"Jiali Xie,&nbsp;Huan Yu,&nbsp;Wenjing Lv,&nbsp;Kezheng Li,&nbsp;Hui Li,&nbsp;Yingxiao Ji,&nbsp;Yunlei Cai,&nbsp;Yifan Cheng,&nbsp;Longfeng Luo,&nbsp;Chunxue Wu,&nbsp;Yiting Xu,&nbsp;Lihuai Du,&nbsp;Yinuo Chen,&nbsp;Chunyang Pang,&nbsp;Binbin Deng","doi":"10.1111/jns.12661","DOIUrl":"10.1111/jns.12661","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Little is known about the ability of serological biomarkers to monitor clinical outcomes in patients with Guillain-Barré syndrome (GBS). The objective of this study was to determine the associations of liver function, easily available and convenient biomarkers, with the clinical course and outcome of severe GBS in patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A prospective data collection was conducted in a cohort of 343 GBS patients from multi-centers between September 2019 and December 2023. Serum samples were obtained at four-time points for mechanical ventilation (MV) patients and two-time points for non-MV patients. The primary endpoint was the need for MV during hospitalization, while secondary outcomes included the ability to walk independently and the mortality at 26-week follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>(i) A total of 208 patients were eligible, of whom 50 required MV with a median (interquartile range) ventilation duration of 15 (8–27) days. (ii) Hypohepatia, as evidenced by reduced total protein (OR 0.913 [95% CI 0.862–0.967]) and albumin (0.775 [0.679–0.884]) 1 week after treatment, along with raised liver enzymes (2.732 [1.007–7.413]), was associated with the risk of MV after adjusting for confounders. (iii) After 26-week follow-up, patients with hypohepatia were less likely to regain independent walking and exhibited higher mortality in survival analysis (all log-rank <i>p</i> &lt; .05). (iv) In a cross-sectional study spanning up to 4 years of follow-up, patients with prolonged MV (≥15 days) experienced a longer time to regain independent ambulation than those with shorter MV (167 [46–316] vs. 69 [24–106], <i>p</i> = .036). However, no relationships between liver function and prolonged MV were revealed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Dynamically monitoring hepatic metabolism and promptly adjusting, it can aid the improvement of GBS in patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"415-427"},"PeriodicalIF":3.9,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349158","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":"Oxygen matters: Unraveling the role of oxygen in the neuronal response to cisplatin","authors":"Jose Crugeiras,&nbsp;Aina Calls,&nbsp;Estefanía Contreras,&nbsp;Montse Alemany,&nbsp;Xavier Navarro,&nbsp;Victor J. Yuste,&nbsp;Oriol Casanovas,&nbsp;Esther Udina,&nbsp;Jordi Bruna","doi":"10.1111/jns.12659","DOIUrl":"10.1111/jns.12659","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Cell culture is a fundamental experimental tool for understanding cell physiology. However, translating these findings to in vivo settings has proven challenging. Replicating donor tissue conditions, including oxygen levels, is crucial for achieving meaningful results. Nevertheless, oxygen culture conditions are often overlooked, particularly in the context of chemotherapy-induced neurotoxicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, we investigated the role of oxygen levels in primary neuronal cultures by comparing neuronal performance under cisplatin exposure (1 μg/mL) in supraphysiological normoxia (representing atmospheric conditions in a standard incubator; 18.5% O₂) and physioxia (representing physiologic oxygen conditions in nervous tissue; 5% O₂). Experiments were also conducted to assess survival, neurite development, senescence marker expression, and proinflammatory cytokine secretion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Under control conditions, both oxygen concentration conditions exhibited similar behaviors. However, after cisplatin administration, sensory neurons cultured under supraphysiological normoxic conditions show higher mortality, exhibit an evolutionarily proinflammatory cytokine profile over time, and activate apoptotic-regulated neuron death markers. In contrast, under physiological conditions, neurons treated with cisplatin exhibited senescence marker expression and an attenuated inflammatory secretome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These results underscore the critical role of oxygen in neuronal culture, particularly in studying compounds where neuronal damage is mechanistically linked to oxidative stress. Even at identical doses of evaluated neurotoxic drugs, distinct cellular phenotypic fates can emerge, impacting translatability to the in vivo setting.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"528-536"},"PeriodicalIF":3.9,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349159","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 “Automated immunohistochemistry of intra-epidermal nerve fibres in skin biopsies: A proof-of-concept study”","authors":"","doi":"10.1111/jns.12658","DOIUrl":"10.1111/jns.12658","url":null,"abstract":"<p>Burgess J, Marshall A, Rapteas L, et al. Automated immunohistochemistry of intra-epidermal nerve fibres in skin biopsies: a proof-of-concept study. <i>J Peripher Nerv Syst</i>. 2024;29(3):329-338. doi:10.1111/jns.12650</p><p>In the above article, the fourth author's name incorrectly appeared as “J. Hamill Kevin.” The name should have read “Kevin J. Hamill.” The article has been corrected.</p><p>We apologize for this error.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"574"},"PeriodicalIF":3.9,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12658","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290008","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":"Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies","authors":"Alessandro Geroldi,&nbsp;Andrea La Barbera,&nbsp;Alessia Mammi,&nbsp;Paola Origone,&nbsp;Andrea Gaudio,&nbsp;Clarissa Ponti,&nbsp;Francesca Sanguineri,&nbsp;Sabrina Matà,&nbsp;Martina Sperti,&nbsp;Ilaria Carboni,&nbsp;Emilia Bellone,&nbsp;Fabio Gotta,&nbsp;Chiara Gemelli,&nbsp;Sara Massucco,&nbsp;Guglielmino Valeria,&nbsp;Lucio Marinelli,&nbsp;Marina Grandis,&nbsp;Giulia Bisogni,&nbsp;Mario Sabatelli,&nbsp;Giuseppe Piscosquito,&nbsp;Gabriella Esposito,&nbsp;Angelo Schenone,&nbsp;Fiore Manganelli,&nbsp;Paola Mandich,&nbsp;Stefano Tozza,&nbsp;Marco Luigetti","doi":"10.1111/jns.12657","DOIUrl":"10.1111/jns.12657","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Since 2016, biallelic mutations in the membrane metalloendopeptidase (<i>MME)</i> gene have been associated with late-onset recessive CMT2 (CMT2T). More recently, heterozygous mutations have also been identified in familial and sporadic patients with late-onset axonal neuropathy, ranging from subclinical to severe. This indicates that the heterozygous <i>MME</i> variants may not be fully penetrant, or alternatively, that they may be a potential risk factor for neuropathy. Here, we describe the clinical, neurophysiological, and genetic findings of 32 CM2T Italian patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The patients were recruited from four different Italian referral centers. Following a comprehensive battery of neurological, electrophysiological, and laboratory examinations, the patients' DNA was subjected to sequencing in order to identify any variants in the gene. Bioinformatic and modeling analyses were performed to evaluate the identified variants' effects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We observe a relatively mild axonal sensory-motor neuropathy with a greater impairment of the lower extremities. Biallelic and monoallelic patients exhibit comparable disease severity, with an earlier onset observed in those with biallelic variants. When considering a subgroup with more than 10 years of disease, it becomes evident that biallelic patients exhibit a more severe form of neuropathy. This suggests that they are more prone to quick progression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>CM2T has been definitively defined as a late-onset neuropathy, with a typical onset in the fifth to sixth decades of life and a more rapidly progressing worsening for biallelic patients. CMT2T can be included in the neuropathies of the elderly, particularly if <i>MME</i> variants heterozygous patients are included.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 4","pages":"472-486"},"PeriodicalIF":3.9,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12657","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142197531","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}