Journal of the Peripheral Nervous System最新文献

{"title":"Laura Feltri: In memoriam","authors":"Stefano C. Previtali, Carla Taveggia","doi":"10.1111/jns.12618","DOIUrl":"10.1111/jns.12618","url":null,"abstract":"","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"4-5"},"PeriodicalIF":3.8,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139972390","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 diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children","authors":"Fernanda Barbosa Figueiredo,&nbsp;Pedro José Tomaselli,&nbsp;Jaime Hallak,&nbsp;Ana Cláudia Mattiello-Sverzut,&nbsp;Anna Paula Paranhos Miranda Covaleski,&nbsp;Cláudia Ferreira da Rosa Sobreira,&nbsp;Silmara de Paula Gouvêa,&nbsp;Wilson Marques Jr","doi":"10.1111/jns.12617","DOIUrl":"10.1111/jns.12617","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifty-three pediatric patients who were assessed prior to reaching the age of 20, and who had clinical diagnoses of axonal hereditary neuropathy or presented with axonal neuropathy as the primary clinical feature, were included in the study. The recruitment of these cases took place from January 1, 2018, to December 31, 2020.</p>\u0000 \u0000 <p>The diagnosis was based on clinical and electrophysiological data. A molecular assessment was made using target-gene panel or whole-exome sequencing. Subsequently, segregation analysis was performed on available family members, and all candidate variants found were confirmed through Sanger.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A molecular diagnosis was reached in 68% of the patients (<i>n</i> = 36/53), considering only pathogenic and probably pathogenic variants. Variants in MFN2 (<i>n</i> = 15) and GJB1 (<i>n</i> = 3) accounted for half of the genetically confirmed patients (50%; <i>n</i> = 18/36). The other 18 genetically diagnosed patients had variants in several less common genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Apart from MFN2 and GJB1 genes, universally recognized as a frequent cause of axonal neuropathies in most studied population, our Brazilian cohort of children with axonal neuropathies showed an important genetic heterogeneity, probably reflecting the multi ethnicity of the Brazilian population. Diagnostic, counseling, and future interventions should consider this characteristic.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"97-106"},"PeriodicalIF":3.8,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905865","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":"Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version","authors":"Federica Rachele Danti,&nbsp;Emanuela Pagliano,&nbsp;Davide Pareyson,&nbsp;Maria Foscan,&nbsp;Alessia Marchi,&nbsp;Alessia Feoli,&nbsp;Fabio Bruschi,&nbsp;Giuseppe Piscosquito,&nbsp;Micheal E. Shy,&nbsp;Sindhu Ramchandren,&nbsp;Isabella Moroni,&nbsp;Tong Tong Wu","doi":"10.1111/jns.12615","DOIUrl":"10.1111/jns.12615","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>The parent-proxy reports can offer complementary informations or be the only source of Quality of Life measurement in young children. The aim of this study was to provide and validate the Italian version of the recently published parent-proxy pCMT-QOL for patients aged 8–18 years old, making it available for possible trials in Italian speaking children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The English-language instrument was translated and adapted into the Italian language using standard procedures: translation, transcultural adaptation, and back-translation. Parent-proxy pCMT-QOL was administered to parents of patients with a genetic diagnosis of CMT, aged 8–18 years old. All parents were retested 2 weeks later to assess reliability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 21 parents of CMT patients (18 CMT1A, 2 CMT2A, 1 CMT2K) were assessed during their children clinical appointments. The Italian-pCMT-QOL showed a high test–retest reliability; none of the parents had any difficulties with the completion of the questionnaire and no further revisions were necessary after completion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The Italian parent-proxy pCMT-QOL is a reliable, culturally adapted, and comparable version of the original English instrument. This questionnaire will improve the quality of the follow-up and will make it possible to monitor more accurately the severity of the disease in Italian-speaking families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"107-110"},"PeriodicalIF":3.8,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12615","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702839","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":"Incidence and risk factors for developing chemotherapy-induced neuropathic pain in 500 cancer patients: A file-based observational study","authors":"Andreas A. Argyriou,&nbsp;Jordi Bruna,&nbsp;Foteini Kalofonou,&nbsp;Roser Velasco,&nbsp;Pantelis Litsardopoulos,&nbsp;Montse Alemany,&nbsp;Garifallia G. Anastopoulou,&nbsp;Haralabos P. Kalofonos","doi":"10.1111/jns.12616","DOIUrl":"10.1111/jns.12616","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To define the incidence and risk factors for developing chemotherapy-induced neuropathic pain (CINP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Retrospective, file-based analysis on cancer patients who received any type of conventional chemotherapy and for whom neurological evaluation was asked to reveal the extent of chemotherapy-induced peripheral neurotoxicity (CIPN) with or without CINP. CINP was assessed by means of the PI-NRS and Douleur Neuropathique-4 questionnaire. The total neuropathy score-clinical version graded the severity of CIPN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The medical files of 500 chemotherapy-treated cancer patients were reviewed. Any grade chronic CIPN was disclosed in 343 (68.6%) patients and CINP in 127 (37%) of them, corresponding to an overall percentage of 25.4% among all 500 included patients. The logistic regression analysis identified as independent predictors for CINP development the presence of uncomplicated diabetes (OR: 2.17; <i>p</i> = .039) and grade 2–3 chronic CIPN (OR: 1.61; <i>p</i> &lt; .001) as also the administration of combined paclitaxel plus cisplatin (reference variable), compared to oxaliplatin (OR: 0.18; <i>p</i> = .001) and taxanes (OR: 0.16; <i>p</i> &lt; .001). The increased severity of acute OXAIPN was associated with CINP (OR: 4.51; <i>p</i> &lt; .001). OXA-treated patients with persistent CINP presented a worst likelihood to improve after chemotherapy discontinuation, than patients receiving combined paclitaxel plus cisplatin (OR: 50; <i>p</i> &lt; .001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The incidence of CINP in our cohort was comparable to previous reports, with severities fluctuating upwards during chemotherapy and declined post-chemotherapy. Uncomplicated diabetes, the combined paclitaxel plus cisplatin treatment and the increased severity of acute oxaliplatin neurotoxicity mostly increase the risk for developing CINP. OXA-treated patients present less possibilities to recover from CINP after chemotherapy discontinuation, than other chemotherapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"38-46"},"PeriodicalIF":3.8,"publicationDate":"2024-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139707035","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":"Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study","authors":"Volkan Tasdemir,&nbsp;Nermin Gorkem Sirin,&nbsp;Arman Cakar,&nbsp;Ayla Culha,&nbsp;Aysun Soysal,&nbsp;Ayse Deniz Elmali,&nbsp;Aysegul Gunduz,&nbsp;Beyza Arslan,&nbsp;Destina Yalcin,&nbsp;Dilek Atakli,&nbsp;Elif Kocasoy Orhan,&nbsp;Elif Sanli,&nbsp;Erdem Tuzun,&nbsp;Eren Gozke,&nbsp;Esra Gursoy,&nbsp;Feray Karaali Savrun,&nbsp;Ferda Ilgen Uslu,&nbsp;Fikret Aysal,&nbsp;Hacer Durmus,&nbsp;Hafsa Bulbul,&nbsp;F. Inci Ertas,&nbsp;Kayihan Uluc,&nbsp;Kemal Tutkavul,&nbsp;Leyla Baysal,&nbsp;Mehmet Baris Baslo,&nbsp;Meral Kiziltan,&nbsp;Metin Mercan,&nbsp;Nevin Pazarci,&nbsp;Nurten Uzun,&nbsp;Onur Akan,&nbsp;Ozlem Cokar,&nbsp;Pinar Kahraman Koytak,&nbsp;Reyhan Sürmeli,&nbsp;Sefer Gunaydin,&nbsp;Selahattin Ayas,&nbsp;Sezin Alpaydin Baslo,&nbsp;Vildan Yayla,&nbsp;Vuslat Yilmaz,&nbsp;Yesim Parman,&nbsp;Zeliha Matur,&nbsp;Zeynep Unlusoy Acar,&nbsp;Ali Emre Oge","doi":"10.1111/jns.12612","DOIUrl":"10.1111/jns.12612","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019–February 2020) and 108 during the pandemic (March 2020–March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, <i>p</i> = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, <i>p</i> = 0.007), and a more severe disease as compared with those without antibodies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"72-81"},"PeriodicalIF":3.8,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12612","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139642355","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 laboratory findings in scrub typhus associated Guillain-Barré syndrome in South Korea","authors":"Byeol-A Yoon,&nbsp;Sun-Young Kim,&nbsp;Juhyeon Kim,&nbsp;Jung Im Seok,&nbsp;Jin Myoung Seok,&nbsp;Sukyoon Lee,&nbsp;Jong Kuk Kim,&nbsp;Seong-il Oh","doi":"10.1111/jns.12614","DOIUrl":"10.1111/jns.12614","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Scrub typhus is an endemic disease in the fall season that occurs in a limited number of places known as the Tsutsugamushi Triangle. Peripheral neuropathy is a common complication of scrub typhus. Herein, we encountered several patients with ascending paralysis after scrub typhus infection, who were diagnosed with Guillain-Barré syndrome (GBS). We aimed to investigate the clinical and laboratory characteristics of patients who developed GBS after scrub typhus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients were retrospectively recruited from six nationwide tertiary centers in South Korea from January 2017 to December 2021. Patients who had been clinically diagnosed with GBS and confirmed to have scrub typhus via laboratory examination and/or the presence of an eschar before the onset of acute limb paralysis were included. The GBS-associated clinical and electrophysiological characteristics, outcomes, and scrub typhus-associated features were collected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the seven enrolled patients, six were female and one was male. The median time from scrub typhus infection to the onset of limb weakness was 6 (range: 2–14) days. All patients had eschar on their bodies. Four patients (57.1%) were admitted to the intensive care unit and received artificial ventilation for respiratory distress. At 6 months, the median GBS disability score was 2 (range, 1–4) points.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Patients with scrub typhus-associated GBS have a severe clinical presentation and require intensive treatment with additional immunotherapies. Therefore, GBS should be included in the differential diagnosis when peripheral neuropathies develop during scrub typhus treatment. Notably, scrub typhus is associated to GBS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"82-87"},"PeriodicalIF":3.8,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139576139","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":"Earlier diagnosis of peripheral neuropathy in primary care: A call to action","authors":"Hoda Gad,&nbsp;Sanjay Kalra,&nbsp;Rizaldy Pinzon,&nbsp;Rey-an Nino Gracia,&nbsp;Kitiyot Yotsombut,&nbsp;Ankia Coetzee,&nbsp;Jalal Nafach,&nbsp;Lee-Ling Lim,&nbsp;Pablo E. Fletcher,&nbsp;Vivien Lim,&nbsp;Rayaz A. Malik","doi":"10.1111/jns.12613","DOIUrl":"10.1111/jns.12613","url":null,"abstract":"<p>Peripheral neuropathy (PN) often remains undiagnosed (~80%). Earlier diagnosis of PN may reduce morbidity and enable earlier risk factor reduction to limit disease progression. Diabetic peripheral neuropathy (DPN) is the most common PN and the 10 g monofilament is endorsed as an inexpensive and easily performed test for DPN. However, it only detects patients with advanced neuropathy at high risk of foot ulceration. There are many validated questionnaires to diagnose PN, but they can be time-consuming and have complex scoring systems. Primary care physicians (PCPs) have busy clinics and lack access to a readily available screening method to diagnose PN. They would prefer a short, simple, and accurate tool to screen for PN. Involving the patient in the screening process would not only reduce the time a physician requires to make a diagnosis but would also empower the patient. Following an expert meeting of diabetologists and neurologists from the Middle East, South East Asia and Latin America, a consensus was formulated to help improve the diagnosis of PN in primary care using a simple tool for patients to screen themselves for PN followed by a consultation with the physician to confirm the diagnosis.</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"28-37"},"PeriodicalIF":3.8,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12613","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139546551","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 34th Annual Meeting of the Japanese Peripheral Nerve Society (JPNS)","authors":"","doi":"10.1111/jns.12604","DOIUrl":"10.1111/jns.12604","url":null,"abstract":"<p>September 8–9, 2023</p><p>Kyoto, Japan</p><p>President of JPNS: Yoji Mikami</p><p>Congress Chair: Ryosuke Kakinoki</p><p>Scientific Committee (Editors of JPNS): Kazunori Sango,</p><p>Hirotaka Haro, Ayato Hayashi, Norimasa Iwasaki, Ken-ichi Kaida,</p><p>Haruki Koike, Satoshi Kuwabara, Masato Matsuoka, Yasumasa Nishiura, Akinori Sakai, Yoshiki Sekijima, Kazuma Sugie, Hiroshi Takashima</p><p>Organizing Committee: Ryosuke Kakinoki, Motoi Kuwahara,</p><p>Ryosuke Ikeguchi, Kazuhiro Ohtani</p><p>Technical Advisor: Chieko Hashimoto</p><p>JPNS Secretariat: www.shunkosha.com/</p><p>Organizing Secretariat: www.acplan.jp/jpns34</p>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 S1","pages":"S3-S19"},"PeriodicalIF":3.8,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jns.12604","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139074524","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":"Digenic FLNA and UCHL1 variants resulting in a complex phenotype","authors":"Helena F. Pernice,&nbsp;Luke F. O'Donnell,&nbsp;Alexander M. Rossor,&nbsp;Matilde Laura,&nbsp;Christopher J. Record,&nbsp;Mariola Skorupinska,&nbsp;Julian Blake,&nbsp;Roy Poh,&nbsp;James Polke,&nbsp;Mary M. Reilly","doi":"10.1111/jns.12611","DOIUrl":"10.1111/jns.12611","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>X-linked variants in Filamin A (<i>FLNA)</i> are associated with the Ehlers-Danlos-syndrome-variant form of periventricular heterotopia, and autosomal dominant variants in ubiquitin C-terminal hydrolase L1 (<i>UCHL1</i>) are associated with a late-onset spastic ataxia, peripheral neuropathy and optic atrophy. Here we present a rare case involving both a novel heterozygous whole-gene deletion of <i>UCHL1</i> and a heterozygous frameshift variant in the <i>FLNA</i> gene resulting in a complex phenotype.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A 67-year-old female with a confirmed pathogenic variant in the <i>FLNA</i> gene, resulting in an enlarged aorta and joint pains, presented with a 4-year history of severe sensory ataxia, upper motor neuron signs, eye movement abnormalities and severe sensory loss.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Neurophysiology including Somatosensory-evoked potentials confirmed the sensory loss as predominantly preganglionic with denervation. Genetic testing revealed a digenic cause of her complex presentation, confirming a pathogenic frameshift variant in the <i>FLNA</i> gene and a heterozygous loss of function deletion in the <i>UCHL1</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>To the best of our knowledge, this is the first case with concomitant pathogenic variants in the <i>FLNA</i> and <i>UCHL1</i> genes which explain the complex phenotype. The severe preganglionic sensory loss is also a rare finding and expands the phenotype of <i>UCHL1</i> variants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"111-115"},"PeriodicalIF":3.8,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830211","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":"Effect of age on metabolomic changes in a model of paclitaxel-induced peripheral neurotoxicity","authors":"Roberta Bonomo,&nbsp;Annalisa Canta,&nbsp;Alessia Chiorazzi,&nbsp;Valentina Alda Carozzi,&nbsp;Cristina Meregalli,&nbsp;Eleonora Pozzi,&nbsp;Paola Alberti,&nbsp;Cecile F. Frampas,&nbsp;Daan R. Van der Veen,&nbsp;Paola Marmiroli,&nbsp;Debra J. Skene,&nbsp;Guido Cavaletti","doi":"10.1111/jns.12609","DOIUrl":"10.1111/jns.12609","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Chemotherapy-induced peripheral neurotoxicity (CIPN) is one of the most common dose-limiting side effects of paclitaxel (PTX) treatment. Many age-related changes have been hypothesized to underlie susceptibility to damage or impaired regeneration/repair after nerve injury. The results of these studies, however, are inconclusive and other potential biomarkers of nerve impairment need to be investigated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Twenty-four young (2 months) and 24 adult (9 months) Wistar male rats were randomized to either PTX treatment (10 mg/kg i.v. once/week for 4 weeks) or vehicle administration. Neurophysiological and behavioral tests were performed at baseline, after 4 weeks of treatment and 2-week follow-up. Skin biopsies and nerve specimens collected from sacrificed animals were examined for intraepidermal nerve fiber (IENF) density assessment and nerve morphology/morphometry. Blood and liver samples were collected for targeted metabolomics analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At the end of treatment, the neurophysiological studies revealed a reduction in sensory nerve action potential amplitude (<i>p</i> &lt; .05) in the caudal nerve of young PTX-animals, and in both the digital and caudal nerve of adult PTX-animals (<i>p</i> &lt; .05). A significant decrease in the mechanical threshold was observed only in young PTX-animals (<i>p</i> &lt; .001), but not in adult PTX-ones. Nevertheless, both young and adult PTX-rats had reduced IENF density (<i>p</i> &lt; .0001), which persisted at the end of follow-up period. Targeted metabolomics analysis showed significant differences in the plasma metabolite profiles between PTX-animals developing peripheral neuropathy and age-matched controls, with triglycerides, diglycerides, acylcarnitines, carnosine, long chain ceramides, sphingolipids, and bile acids playing a major role in the response to PTX administration.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our study identifies for the first time multiple related metabolic axes involved in PTX-induced peripheral neurotoxicity, and suggests age-related differences in CIPN manifestations and in the metabolic profile.</p>\u0000 </section>\u0000 </div>","PeriodicalId":17451,"journal":{"name":"Journal of the Peripheral Nervous System","volume":"29 1","pages":"58-71"},"PeriodicalIF":3.8,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138826110","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}