Journals Journal of the Peripheral Nerv...

Journal of the Peripheral Nervous System : JPNS
Alessia Chiorazzi, Annalisa Canta, Valentina Alda Carozzi, Cristina Meregalli, Eleonora Pozzi, Elisa Ballarini, Virginia Rodriguez-Menendez, Paola Marmiroli, Guido Cavaletti, Paola Alberti
BACKGROUND AND AIMS: Chemotherapy-induced peripheral neurotoxicity (CIPN) is a common and long-lasting adverse event of several anticancer compounds, whose treatment is still lacking. To fill this gap, preclinical studies are warranted, exploiting highly translational outcome measure(s) to transfer data from bench to bed side. Nerve excitability testing (NET) enables to test in vivo axonal properties and can be used to monitor early changes leading to axonal damage. METHODS: We tested NET use in 2 different CIPN rat models: oxaliplatin (OHP) and paclitaxel (PTX)...
November 27, 2023: Journal of the Peripheral Nervous System: JPNS
Perry T C van Doormaal, Simone Thomas, Senda Ajroud-Driss, Robert N Cole, Lauren R DeVine, Mazen M Dimachkie, Stefanie Geisler, Roy Freeman, David M Simpson, J Robinson Singleton, A Gordon Smith, Amro Stino, Ahmet Höke
BACKGROUND AND AIMS: Why only half of the idiopathic peripheral polyneuropathy (IPN) patients develop neuropathic pain is unknown. By conducting a proteomics analysis on IPN patients, we aimed to discover proteins and new pathways that are associated with neuropathic pain. METHODS: We conducted unbiased mass-spectrometry proteomics analysis on blood plasma from 31 IPN patients with severe neuropathic pain and 29 IPN patients with no pain, to investigate protein biomarkers and protein-protein interactions associated with neuropathic pain...
November 21, 2023: Journal of the Peripheral Nervous System: JPNS
Aritrani Sarkar, Madhu Nagappa, Saikat Dey, Sandipan Mondal, Gopika Suresh Babu, Saptamita Pal Choudhury, Pokala Akhil, Monojit Debnath
Immune checkpoint molecules play pivotal roles in the regulation of immune homeostasis. Disruption of the immune checkpoints causes autoimmune/inflammatory as well as malignant disorders. Over the past few years, the immune checkpoint molecules with inhibitory function emerged as potential therapeutic targets in oncological conditions. The inhibition of the function of these molecules by using immune checkpoint inhibitors (ICIs) has brought paradigmatic changes in cancer therapy due to their remarkable clinical benefits, not only in improving the quality of life but also in prolonging the survival time of cancer patients...
November 21, 2023: Journal of the Peripheral Nervous System: JPNS
Alessandro Geroldi, Stefano Tozza, Chiara Fiorillo, Maria Nolano, Paola Fossa, Floriana Vitale, Regi Domi, Andrea Gaudio, Alessia Mammi, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Federico Zara, Matteo Cataldi, Vincenzo Salpietro, Consuelo Barbara Venturi, Sara Massucco, Angelo Schenone, Fiore Manganelli, Paola Mandich, Emilia Bellone, Fabio Gotta
BACKGROUND AND AIMS: POLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but recently de novo heterozygous mutations have been described in early onset peripheral demyelinating neuropathies with or without central involvement. Here, we report the first Italian case carrying a de novo variant in POLR3B with a pure neuropathy phenotype and primary axonal involvement of the largest nerve fibers. METHODS: Nerve conduction studies, sympathetic skin response, dynamic sweat test, tactile and thermal quantitative sensory testing and brain MRI were performed according to standard procedures...
October 28, 2023: Journal of the Peripheral Nervous System: JPNS
Victor Augusto Zanesi Maciel, Gustavo Maximiano-Alves, Rodrigo Siqueira Soares Frezatti, Anna Letícia De Moraes Alves, Bianca Mara Alves Andrade, Rita De Cassia Carvalho Leal, Pedro José Tomaselli, Mary M Reilly, Wilson Marques
BACKGROUND AND AIMS: X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical and electrophysiological characterization of two Brazilian families. METHODS: We conducted comprehensive clinical assessments, extensive electrophysiological evaluations, and performed whole-exome sequencing in the probands to investigate the genetic basis of the disease...
October 17, 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...
October 13, 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...
October 10, 2023: Journal of the Peripheral Nervous System: JPNS
Yun Tian, Xuan Hou, Wanqian Cao, Lu Zhou, Bin Jiao, Sizhe Zhang, Qiao Xiao, Jin Xue, Ying Wang, Ling Weng, Liangjuan Fang, Honglan Yang, Yafang Zhou, Fang Yi, Xiaoyu Chen, Juan Du, Qian Xu, Li Feng, Zhenhua Liu, Sen Zeng, Qiying Sun, Nina Xie, Mengchuan Luo, Mengli Wang, Mengqi Zhang, Qiuming Zeng, Shunxiang Huang, Lingyan Yao, Yacen Hu, Hongyu Long, Yuanyuan Xie, Si Chen, Qing Huang, Junpu Wang, Bin Xie, Lin Zhou, Lili Long, Jifeng Guo, Junling Wang, Xinxiang Yan, Hong Jiang, Hongwei Xu, Ranhui Duan, Beisha Tang, Ruxu Zhang, Lu Shen
BACKGROUND AND AIMS: Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder mainly caused by abnormally expanded GGC repeats within the NOTCH2NLC gene. Most patients with NIID show polyneuropathy. Here, we aim to investigate diagnostic electrophysiological markers of NIID. METHODS: In this retrospective dual-center study, we reviewed 96 patients with NOTCH2NLC-related NIID, 94 patients with genetically confirmed Charcot-Marie-Tooth (CMT) disease, and 62 control participants without history of peripheral neuropathy, who underwent nerve conduction studies between 2018 and 2022...
September 25, 2023: Journal of the Peripheral Nervous System: JPNS
Zoi Kontogeorgiou, Chrisoula Kartanou, Michail Rentzos, Panagiotis Kokotis, Evangelos Anagnostou, Thomas Zambelis, Elisabeth Chroni, Argyris Dinopoulos, Marios Panas, Georgios Koutsis, Georgia Karadima
BACKGROUND AND AIMS: Axonal forms of Charcot-Marie-Tooth disease (CMT) are classified as CMT2, distal hereditary motor neuropathy (dHMN) or hereditary sensory neuropathy (HSN) and can be caused by mutations in over 100 genes. We presently aimed to investigate for the first time the genetic landscape of axonal CMT in the Greek population. METHODS: Sixty index patients with CMT2, dHMN or HSN were screened by a combination of Sanger sequencing (GJB1) and next-generation sequencing custom-made gene panel covering 24 commonly mutated genes in axonal CMT...
September 25, 2023: Journal of the Peripheral Nervous System: JPNS
Nowshin Papri, Zhahirul Islam, Gulshan Ara, Tamal Saha, Sonja E Leonhard, Hubert P Endtz, Bart C Jacobs, Quazi D Mohammad
BACKGROUND AND AIMS: Considerable variation in clinical practice for management of Guillain-Barré syndrome (GBS) has been observed worldwide. Diagnosis and treatment are challenging in low- and middle-income countries (LMIC) due to lack of facilities and treatment availability. We aimed to evaluate current clinical practice and limitations and to provide recommendation for GBS management in low-resource settings. METHODS: We conducted an explanatory-sequential mixed-methods survey among neurologists and internists working in tertiary and secondary government hospitals in Bangladesh...
September 12, 2023: Journal of the Peripheral Nervous System: JPNS
(no author information available yet)
No abstract text is available yet for this article.
October 2023: Journal of the Peripheral Nervous System: JPNS
Moodley K, Patel Vb, A A Moodley, Bill Pla, Kajee A, Mgbachi V, Fehmi J, Rinaldi S
BACKGROUND: The frequency of nodal-paranodal antibodies in HIV-infected patients with chronic immune mediated radiculo-neuropathies (IMRN) has not been previously described. METHODS: HIV-infected patients who met the inclusion criteria for chronic IMRN were screened for IgG antibodies directed against nodal (neurofascin (NF)186) and paranodal (NF155, contactin-1 (CNTN1) and contactin-associated protein, Caspr1) cell adhesion molecules, using a live, cell-based assay...
September 7, 2023: Journal of the Peripheral Nervous System: JPNS
Matthew Silsby, Steve Vucic
No abstract text is available yet for this article.
September 4, 2023: Journal of the Peripheral Nervous System: JPNS
Gülden Akdal, Koray Koçoğlu, Rahmi Tümay Ala, Tural Tanrıverdizade, Pınar Özçelik, İhsan Şükrü Şengün
No abstract text is available yet for this article.
September 4, 2023: Journal of the Peripheral Nervous System: JPNS
Jack R Fennessy, Kayla M D Cornett, Joshua Burns, Manoj P Menezes
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short-term reports, but the quantum of benefit in various clinical domains is not well understood. A PubMed search was conducted, which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow-up assessments...
September 2023: Journal of the Peripheral Nervous System: JPNS
Luca Leonardi, Rocco Costanzo, Francesca Forcina, Stefania Morino, Giovanni Antonini, Marco Salvetti, Marco Luigetti, Angela Romano, Guido Primiano, Valeria Guglielmino, Laura Fionda, Matteo Garibaldi, Antonio Lauletta, Elena Rossini, Laura Tufano, Marco Ceccanti, Nicoletta Esposito, Pietro Falco, Giuseppe di Pietro, Andrea Truini, Eleonora Galosi
INTRODUCTION: Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) presymptomatic carriers often show preclinical abnormalities at small fiber-related diagnostic tests. However, no validated biomarker is currently available to use for presymptomatic carriers' follow-up, thus helping therapeutic decision making. Our study aimed at assessing nerve conduction study (NCS), quantitative sensory testing (QST), and skin biopsy parameters in a large cohort of late-onset ATTRv presymptomatic carriers and to evaluate whether they correlated with predicted age of disease onset (PADO)...
September 2023: Journal of the Peripheral Nervous System: JPNS
Marianna Di Egidio, Cristian R Bacaglio, Rocio Arrejoría, Andrés M Villa, Gustavo A Nores, Pablo H H Lopez
BACKGROUND AND AIMS: Multifocal motor neuropathy (MMN) is a peripheral nerve disorder characterized by slow progressive distal asymmetric weakness with minimal or no sensory impairment. Currently, a vast evidence supports a direct pathogenic role of IgM anti-GM1 antibodies on disease pathogenesis. Patients with MMN seropositive for GM1-specific IgM antibodies have significantly more weakness, disability and axon loss than patients without these antibodies. During the screening for IgM anti-GM1 antibodies in a cohort of patients with neuropathy we noticed an absence or significant reduction of natural IgM anti-GM1 autoreactivity in some patients with MMN, suggesting a mechanism of self-control of autoreactivity...
September 2023: Journal of the Peripheral Nervous System: JPNS
Emil Peters, Mustapha Itani, Alexander G Kristensen, Astrid Juhl Terkelsen, Thomas Krøigård, Hatice Tankisi, Troels S Jensen, Nanna B Finnerup, Sandra Sif Gylfadottir
BACKGROUND AND AIMS: Cardiovascular autonomic neuropathy (CAN) in patients with diabetes is associated with poor prognosis. We aimed to assess signs of CAN and autonomic symptoms and to investigate the impact of sensorimotor neuropathy on CAN by examining type 2 diabetes patients with (DPN [distal sensorimotor polyneuropathy]) and without distal sensorimotor polyneuropathy (noDPN) and healthy controls (HC). Secondarily, we aimed to describe the characteristics of patients with CAN. METHODS: A population of 374 subjects from a previously described cohort of the Danish Centre for Strategic Research in Type 2 Diabetes (DD2) were included...
September 2023: Journal of the Peripheral Nervous System: JPNS
Arman Çakar, Gulandam Bagırova, Hacer Durmuş, Oya Uyguner, Yeşim Parman
BACKGROUND AND AIMS: Homozygous loss-of-function mutations in the RETREG1 gene result in Hereditary Sensory Autonomic Neuropathy Type 2B. Clinical features include pain loss, autonomic disturbances, and upper motor neuron features. METHODS: We evaluated the clinical and genetic features of seven patients from four families with RETREG1 variants. RESULTS: Five patients were male. The median age of disease onset was 7.00 ± 2...
September 2023: Journal of the Peripheral Nervous System: JPNS
Aurore Fernandez, Guillaume Graf, Aurélie Lasserre, Jean-Bernard Daeppen, Paul Chu Sin Chung, Chantal Berna, Marc R Suter
INTRODUCTION: Chronic heavy alcohol use is known to cause neurological complications such as peripheral neuropathy. Concerning the pathophysiology, few sural nerve and skin biopsy studies showed that small fibers might be selectively vulnerable to degeneration in alcohol-related peripheral neuropathy. Pain has rarely been properly evaluated in this pathology. The present study aims at assessing pain intensity, potential neuropathic characteristics as well as the functionality of both small and large nerve sensitive fibers...
September 2023: Journal of the Peripheral Nervous System: JPNS
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