Journals Journal of the Peripheral Nerv...

Journal of the Peripheral Nervous System : JPNS
Antonino Uncini, Tiziana Cavallaro, Gian Maria Fabrizi, Fiore Manganelli, Jean-Michel Vallat
Nerve conduction studies are usually the first diagnostic step in peripheral nerve disorders and their results are the basis for planning further investigations. However, there are some commonplaces in the interpretation of electrodiagnostic findings in peripheral neuropathies that, although useful in the everyday practice, may be misleading: (1) conduction block and abnormal temporal dispersion are distinctive features of acquired demyelinating disorders; (2) hereditary neuropathies are characterized by uniform slowing of conduction velocity; (3) axonal neuropathies are simply diagnosed by reduced amplitude of motor and sensory nerve action potentials with normal or slightly slow conduction velocity...
April 10, 2024: Journal of the Peripheral Nervous System: JPNS
Claudia Cutellè, Alberto De Lorenzo, Pietro Emiliano Doneddu, Maria Francesca Creta, Carlo Selmi, Giuseppe Liberatore, Andrea Giordano, Francesco Gentile, Gian Luca Erre, Eduardo Nobile-Orazio
Advances in the understanding of cytokines have revolutionized mechanistic treatments for chronic inflammatory and autoimmune diseases, as exemplified by rheumatoid arthritis. We conducted a systematic literature review on the role of cytokines and chemokines in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN). Ovid Medline, EMBASE and Web of Science were searched until August 31, 2022 for human studies investigating cytokines levels in CIDP or MMN. Fifty-five articles on 1061 CIDP patients and 86 MMN patients were included, with a median of 18 patients per study (range 3-71)...
April 10, 2024: Journal of the Peripheral Nervous System: JPNS
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Mary M Reilly, Andrea Cortese, Michael E Shy, Steven S Scherer, David N Herrmann, Vera Fridman, Jonathan Baets, Mario Saporta, Reza Seyedsadjadi, Tanya Stojkovic, Kristl G Claeys, Pooja Patel, Shawna Feely, Adriana P Rebelo, Maike F Dohrn, Stephan Züchner
BACKGROUND: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets. In this study, we present a comprehensive analysis of clinical examination results from 1564 CMT1A patients sourced from a prospective natural history study conducted by the RDCRN-INC (Inherited Neuropathy Consortium)...
April 5, 2024: Journal of the Peripheral Nervous System: JPNS
Abigail L D Tadenev, Courtney L Hatton, Robert W Burgess
BACKGROUND: Inhibition of HDAC6 has been proposed as a broadly applicable therapeutic strategy for Charcot-Marie-Tooth disease (CMT). Inhibition of HDAC6 increases the acetylation of proteins important in axonal trafficking, such as α-tubulin and Miro, and has been shown to be efficacious in several preclinical studies using mouse models of CMT. AIMS: Here, we sought to expand on previous preclinical studies by testing the effect of genetic deletion of Hdac6 on mice carrying a humanized knockin allele of Gars1, a model of CMT-type 2D...
March 29, 2024: Journal of the Peripheral Nervous System: JPNS
Jeroen W Bos, Ewout J N Groen, Henny G Otten, Kevin Budding, Ruben P A van Eijk, Chantall Curial, Tineke Kardol-Hoefnagel, H Stephan Goedee, Leonard H van den Berg, W Ludo van der Pol
BACKGROUND AND AIMS: To further substantiate the role of antibody-mediated complement activation in multifocal motor neuropathy (MMN) immunopathology, we investigated the distribution of promotor polymorphisms of genes encoding the membrane-bound complement regulators CD46, CD55, and CD59 in patients with MMN and controls, and evaluated their association with disease course. METHODS: We used Sanger sequencing to genotype five common polymorphisms in the promotor regions of CD46, CD55, and CD59 in 133 patients with MMN and 380 controls...
March 25, 2024: Journal of the Peripheral Nervous System: JPNS
Jack R Fennessy, Gabrielle A Donlevy, Marnee J McKay, Joshua Burns, Kayla M D Cornett, Manoj P Menezes
BACKGROUND AND AIMS: Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD...
March 6, 2024: Journal of the Peripheral Nervous System: JPNS
Fernanda Barbosa Figueiredo, Pedro José Tomaselli, Jaime Hallak, Ana Cláudia Mattiello-Sverzut, Anna Paula Paranhos Miranda Covaleski, Cláudia Ferreira da Rosa Sobreira, Silmara de Paula Gouvêa, Wilson Marques
BACKGROUND AND AIMS: 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. METHODS: 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...
February 20, 2024: Journal of the Peripheral Nervous System: JPNS
Federica Rachele Danti, Emanuela Pagliano, Davide Pareyson, Maria Foscan, Alessia Marchi, Alessia Feoli, Fabio Bruschi, Giuseppe Piscosquito, Micheal E Shy, Sindhu Ramchandren, Isabella Moroni, Tong Tong Wu
BACKGROUND AND AIMS: 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. METHODS: The English-language instrument was translated and adapted into the Italian language using standard procedures: translation, transcultural adaptation, and back-translation...
February 8, 2024: Journal of the Peripheral Nervous System: JPNS
Andreas A Argyriou, Jordi Bruna, Foteini Kalofonou, Roser Velasco, Pantelis Litsardopoulos, Montse Alemany, Garifallia G Anastopoulou, Haralabos P Kalofonos
OBJECTIVE: To define the incidence and risk factors for developing chemotherapy-induced neuropathic pain (CINP). METHODS: 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...
February 4, 2024: Journal of the Peripheral Nervous System: JPNS
Volkan Tasdemir, Nermin Gorkem Sirin, Arman Cakar, Ayla Culha, Aysun Soysal, Ayse Deniz Elmali, Aysegul Gunduz, Beyza Arslan, Destina Yalcin, Dilek Atakli, Elif Kocasoy Orhan, Elif Sanli, Erdem Tuzun, Eren Gozke, Esra Gursoy, Feray Karaali Savrun, Ferda Ilgen Uslu, Fikret Aysal, Hacer Durmus, Hafsa Bulbul, F Inci Ertas, Kayihan Uluc, Kemal Tutkavul, Leyla Baysal, Mehmet Baris Baslo, Meral Kiziltan, Metin Mercan, Nevin Pazarci, Nurten Uzun, Onur Akan, Ozlem Cokar, Pinar Kahraman Koytak, Reyhan Sürmeli, Sefer Gunaydin, Selahattin Ayas, Sezin Alpaydin Baslo, Vildan Yayla, Vuslat Yilmaz, Yesim Parman, Zeliha Matur, Zeynep Unlusoy Acar, Ali Emre Oge
BACKGROUND AND AIMS: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul. METHODS: 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...
January 30, 2024: Journal of the Peripheral Nervous System: JPNS
Byeol-A Yoon, Sun-Young Kim, Juhyeon Kim, Jung Im Seok, Jin Myoung Seok, Sukyoon Lee, Jong Kuk Kim, Seong-Il Oh
BACKGROUND AND AIMS: 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...
January 29, 2024: Journal of the Peripheral Nervous System: JPNS
Hoda Gad, Sanjay Kalra, Rizaldy Pinzon, Rey-An Nino Gracia, Kitiyot Yotsombut, Ankia Coetzee, Jalal Nafach, Lee-Ling Lim, Pablo E Fletcher, Vivien Lim, Rayaz A Malik
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...
January 24, 2024: Journal of the Peripheral Nervous System: JPNS
Stefano C Previtali, Carla Taveggia
No abstract text is available yet for this article.
March 2024: Journal of the Peripheral Nervous System: JPNS
(no author information available yet)
No abstract text is available yet for this article.
January 2024: Journal of the Peripheral Nervous System: JPNS
Helena F Pernice, Luke F O'Donnell, Alexander M Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
AIM: X-linked variants in FLNA are associated with the Ehlers-Danlos-Syndrome (EDS)-variant form of periventricular heterotopia, and autosomal dominant variants in UCHL1 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 UCHL1 and a heterozygous frameshift variant in the FLNA gene resulting in a complex phenotype. METHODS: A 67-year-old female with a confirmed pathogenic variant in the FLNA 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...
December 22, 2023: Journal of the Peripheral Nervous System: JPNS
Roberta Bonomo, Annalisa Canta, Alessia Chiorazzi, Valentina Alda Carozzi, Cristina Meregalli, Eleonora Pozzi, Paola Alberti, Cecile F Frampas, Daan R Van der Veen, Paola Marmiroli, Debra J Skene, Guido Cavaletti
BACKGROUND AND AIMS: 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. METHODS: Twenty-four young (2 months) and 24 adult (9 months) Wistar male rats were randomized to either PTX treatment (10 mg/kg i...
December 21, 2023: Journal of the Peripheral Nervous System: JPNS
Vadim Afanasiev, Pinelopi Tsouni, Thierry Kuntzer, Anne Cairoli, Emilien Delmont, Jean-Michel Vallat, Jérôme Devaux, Marie Theaudin
AIM: Autoimmune nodopathies have specific clinicopathologic features, antibodies directed against nodal proteins (neurofascin 186) or paranodal proteins (neurofascin 155, contactin 1, contactin-associated protein 1 (Caspr1)), and usually have a poor response to first-line therapies for chronic inflammatory demyelinating polyradiculoneuropathy. Anti-Caspr1 nodopathy treated with autologous hematopoietic stem cell transplantation (AHSCT) has not been previously reported. METHODS: We report the first case of an anti-Caspr1 antibody-positive nodopathy refractory to high-intensity immunosuppressive treatment, including rituximab, that responded dramatically to AHCST...
December 20, 2023: Journal of the Peripheral Nervous System: JPNS
Louise Sloth Kodal, Anne Møller Witt, Britt Staevnsbo Pedersen, Morten Müller Aagaard, Tina Dysgaard
Neurofilament light protein (NfL) is a part of the neuronal skeleton, primarily expressed in axons, and is released when nerves are damaged. NfL has been found to be a potential diagnostic biomarker in different types of polyneuropathies. However, whether NfL levels can be used as a predictor for the risk of disease progression is currently less understood. We searched MEDLINE (PubMed), Embase, Cochrane Library, and Web of Science Searches and included longitudinal studies with a baseline and follow-up examination of adult patients with polyneuropathy and NfL measured in blood...
December 8, 2023: Journal of the Peripheral Nervous System: JPNS
Kuo-Hsuan Chang, Chiung-Mei Chen, Chia-Ni Lin, Sung-Sheng Tsai, Rong-Kuo Lyu, Chun-Che Chu, Long-Sun Ro, Ming-Feng Liao, Hong-Shiu Chang, Yi-Ching Weng, Jawl-Shan Hwang, Hung-Chou Kuo
BACKGROUND: Distal symmetric sensorimotor polyneuropathy (DSPN) is a common neurologic complication of type 2 diabetes mellitus (T2DM), but the underlying mechanisms and changes in serum metabolites remain largely undefined. This study aimed to characterize the plasma metabolite profiles of participants with T2DM using targeted metabolomics analysis and identify potential biomarkers for DSPN. METHODS: A combined liquid chromatography MS/MS and direct flow injection were used to quantify plasma metabolite obtained from 63 participants with T2DM, 81 with DSPN, and 33 nondiabetic control participants...
December 2023: Journal of the Peripheral Nervous System: JPNS
Pieter A van Doorn, Peter Y K Van den Bergh, Robert D M Hadden, Bert Avau, Patrik Vankrunkelsven, Shahram Attarian, Patricia H Blomkwist-Markens, David R Cornblath, H Stephan Goedee, Thomas Harbo, Bart C Jacobs, Susumu Kusunoki, Helmar C Lehmann, Richard A Lewis, Michael P Lunn, Eduardo Nobile-Orazio, Luis Querol, Yusuf A Rajabally, Thirugnanam Umapathi, Haluk A Topaloglu, Hugh J Willison
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy. Symptoms may vary greatly in presentation and severity. Besides weakness and sensory disturbances, patients may have cranial nerve involvement, respiratory insufficiency, autonomic dysfunction and pain. To develop an evidence-based guideline for the diagnosis and treatment of GBS, using Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology, a Task Force (TF) of the European Academy of Neurology (EAN) and the Peripheral Nerve Society (PNS) constructed 14 Population/Intervention/Comparison/Outcome questions (PICOs) covering diagnosis, treatment and prognosis of GBS, which guided the literature search...
December 2023: Journal of the Peripheral Nervous System: JPNS
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