样式: 排序: IF: - GO 导出 标记为已读
-
Development of a functional outcome measure for riboflavin transporter deficiency J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-03-06 Jack R. Fennessy, Gabrielle A. Donlevy, Marnee J. McKay, Joshua Burns, Kayla M. D. Cornett, Manoj P. Menezes
Background and AimsRiboflavin 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
-
-
Laura Feltri: In memoriam J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-02-26 Stefano C. Previtali, Carla Taveggia
-
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-02-20 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
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.
-
Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-02-08 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
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.
-
Incidence and risk factors for developing chemotherapy-induced neuropathic pain in 500 cancer patients: A file-based observational study J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-02-04 Andreas A. Argyriou, Jordi Bruna, Foteini Kalofonou, Roser Velasco, Pantelis Litsardopoulos, Montse Alemany, Garifallia G. Anastopoulou, Haralabos P. Kalofonos
To define the incidence and risk factors for developing chemotherapy-induced neuropathic pain (CINP).
-
Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-01-30 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
This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul.
-
Clinical and laboratory findings in scrub typhus associated Guillain-Barré syndrome in South Korea J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-01-29 Byeol-A Yoon, Sun-Young Kim, Juhyeon Kim, Jung Im Seok, Jin Myoung Seok, Sukyoon Lee, Jong Kuk Kim, Seong-il Oh
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
-
Earlier diagnosis of peripheral neuropathy in primary care: A call to action J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-01-24 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
-
Abstracts of the 34th Annual Meeting of the Japanese Peripheral Nerve Society (JPNS) J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2024-01-02
September 8–9, 2023 Kyoto, Japan President of JPNS: Yoji Mikami Congress Chair: Ryosuke Kakinoki Scientific Committee (Editors of JPNS): Kazunori Sango, Hirotaka Haro, Ayato Hayashi, Norimasa Iwasaki, Ken-ichi Kaida, Haruki Koike, Satoshi Kuwabara, Masato Matsuoka, Yasumasa Nishiura, Akinori Sakai, Yoshiki Sekijima, Kazuma Sugie, Hiroshi Takashima Organizing Committee: Ryosuke Kakinoki, Motoi Kuwahara
-
Digenic FLNA and UCHL1 variants resulting in a complex phenotype J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-12-22 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
X-linked variants in Filamin A (FLNA) are associated with the Ehlers-Danlos-syndrome-variant form of periventricular heterotopia, and autosomal dominant variants in ubiquitin C-terminal hydrolase L1 (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
-
Effect of age on metabolomic changes in a model of paclitaxel-induced peripheral neurotoxicity J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-12-21 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
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
-
Successful autologous hematopoietic stem cell transplantation in a refractory anti-Caspr1 antibody nodopathy J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-12-20 Vadim Afanasiev, Pinelopi Tsouni, Thierry Kuntzer, Anne Cairoli, Emilien Delmont, Jean-Michel Vallat, Jérôme Devaux, Marie Théaudin
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
-
Prognostic value of neurofilament light in blood in patients with polyneuropathy: A systematic review J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-12-08 Louise Sloth Kodal, Anne Møller Witt, Britt Stævnsbo 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
-
Morphofunctional characterisation of axonal damage in different rat models of chemotherapy-induced peripheral neurotoxicity: The role of nerve excitability testing J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-11-27 Alessia Chiorazzi, Annalisa Canta, Valentina Alda Carozzi, Cristina Meregalli, Eleonora Pozzi, Elisa Ballarini, Virginia Rodriguez-Menendez, Paola Marmiroli, Guido Cavaletti, Paola Alberti
Chemotherapy-induced peripheral neurotoxicity (CIPN) is a common and long-lasting adverse event of several anticancer compounds, for which treatment has not yet been developed. To fill this gap, preclinical studies are warranted, exploiting highly translational outcome measure(s) to transfer data from bench to bedside. Nerve excitability testing (NET) enables to test in vivo axonal properties and can
-
Plasma proteomic analysis on neuropathic pain in idiopathic peripheral neuropathy patients J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-11-21 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
Why only half of the idiopathic peripheral neuropathy (IPN) patients develop neuropathic pain remains unknown. By conducting a proteomics analysis on IPN patients, we aimed to discover proteins and new pathways that are associated with neuropathic pain.
-
Synergistic effects of immune checkpoints and checkpoint inhibitors in inflammatory neuropathies: Implications and mechanisms J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-11-21 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
-
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-10-28 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
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
-
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-10-17 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
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.
-
Identification of blood metabolic biomarkers associated with diabetic distal symmetric sensorimotor polyneuropathy in patients with type 2 diabetes mellitus J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-10-13 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
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.
-
PNS Abstracts 2023 J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-10-09
P 002 VARIANTS AND CLINICAL FEATURES OF KOREAN PATIENTS WITH HSPB1, HSPB3 OR HSPB8 MUTATIONS Hye Jin Kim1, Soo Hyun Nam1, Hye Mi Kwon1, Si On Lim2, Na Young Jung2, Ah Jin Lee2, Hee Ji Choi2, Wonseok Son2, Sang Beom Kim3, Ki Wha Chung2, Byung-Ok Choi1,4 1Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, 2Department of Biological Sciences
-
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-10-10 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
-
Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-09-25 Zoi Kontogeorgiou, Chrisoula Kartanou, Michail Rentzos, Panagiotis Kokotis, Evangelos Anagnostou, Thomas Zambelis, Elisabeth Chroni, Argyris Dinopoulos, Marios Panas, Georgios Koutsis, Georgia Karadima
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.
-
Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-09-25 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
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.
-
Management of Guillain–Barré syndrome in Bangladesh: Clinical practice, limitations and recommendations for low- and middle-income countries J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-09-12 Nowshin Papri, Zhahirul Islam, Gulshan Ara, Tamal Saha, Sonja E. Leonhard, Hubert P. Endtz, Bart C. Jacobs, Quazi D. Mohammad
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.
-
Nodal–paranodal antibodies in HIV-immune mediated radiculo-neuropathies: Clinical phenotypes and relevance J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-09-07 K. Moodley, V. B. Patel, A. A. Moodley, P. L. A. Bill, A. Kajee, V. Mgbachi, J. Fehmi, S. Rinaldi
The frequency of nodal–paranodal antibodies in HIV-infected patients with chronic immune-mediated radiculo-neuropathies (IMRN) has not been previously described.
-
Imbalance and lower limb tremor in chronic inflammatory demyelinating polyradiculoneuropathy: Reply to Letter to the Editor. J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-09-04 Matthew Silsby,Steve Vucic
-
Corneal confocal microscopy in small and mixed fiber neuropathy—Comparison with skin biopsy and cold detection in a large prospective cohort J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-31 Asger Bjørnkær, Laura M. Gaist, Jakob V. Holbech, David Gaist, Martin Wirenfeldt, Søren H. Sindrup, Thomas Krøigård
The diagnosis of small fiber neuropathy (SFN) is supported by reduced intraepidermal nerve fiber density (IENFD). The noninvasive method corneal confocal microscopy (CCM) has the potential to be a practical alternative. We aimed to estimate the diagnostic accuracy of CCM compared with IENFD and cold detection thresholds (CDT) in SFN and mixed fiber neuropathy (MFN).
-
Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-16 Lu Li, Yongzhi Xie, Sen Zeng, Xiaobo Li, Zhiqiang Lin, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Jun Liu, Pengfei Rong, Ruxu Zhang
Biallelic variants in the sorbitol dehydrogenase (SORD) gene have been identified as the genetic cause of autosomal recessive (AR) peripheral neuropathy (PN) manifesting as Charcot–Marie–Tooth disease type 2 (CMT2) or distal hereditary motor neuropathy (dHMN). We aim to observe the genetic and clinical spectrum of a cohort of patients with SORD-related PN (SORD-PN).
-
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-09 Jun-Hui Yuan, Xiaoyang Cheng, Eiji Matsuura, Yujiro Higuchi, Masahiro Ando, Akihiro Hashiguchi, Akiko Yoshimura, Ryo Nakachi, Jun Mine, Takeshi Taketani, Kenichi Maeda, Saori Kawakami, Ryutaro Kira, Shoko Tanaka, Kazuaki Kanai, Fadia Dib-Hajj, Sulayman D. Dib-Hajj, Stephen G. Waxman, Hiroshi Takashima
Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pain disorder (PEPD). The aim of this study was to determine the genetic etiology of patients experiencing neuropathic pain, and shed light on the underlying pathogenesis.
-
Ophthalmological involvement in wild-type transthyretin amyloidosis: A multimodal imaging study J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-08 Luisa Frizziero, Alessandro Salvalaggio, Eleonora Cosmo, Alberto Cipriani, Edoardo Midena, Chiara Briani
Ophthalmological abnormalities have been reported in hereditary transthyretin-related amyloidosis (ATTRv, v for variant) but not in wild-type transthyretin-related amyloidosis (ATTRwt).
-
Two new mouse models of Gjb1-associated Charcot–Marie–Tooth disease type 1X J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-07 A. L. D. Tadenev, C. L. Hatton, B. Pattavina, T. Mullins, R. Schneider, L. P. Bogdanik, Robert W. Burgess
Charcot–Marie–Tooth disease type 1X is caused by mutations in GJB1, which is the second most common gene associated with inherited peripheral neuropathy. The GJB1 gene encodes connexin 32 (CX32), a gap junction protein expressed in myelinating glial cells. The gene is X-linked, and the mutations cause a loss of function.
-
Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-03 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
-
Quantitative sensory testing and skin biopsy findings in late-onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO) J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-08-03 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
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)
-
Evidence for spontaneous regulation of the humoral IgM anti-GM1 autoimmune response by IgG antibodies in multifocal motor neuropathy patients J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-07-27 Marianna Di Egidio, Cristian R. Bacaglio, Rocio Arrejoría, Andrés M. Villa, Gustavo A. Nores, Pablo H. H. Lopez
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
-
Differences in the ultrastructure of neurons in the spinal ganglion and dorsal rootlet between rats treated with cisplatin only versus co-administration with a sphingosine 1-phosphate receptor 2 agonist in attenuating neuropathy and allodynia J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-07-22 Kanokporn Chayaburakul, Wei Yi Ong, Deron R. Herr, Phetnarin Kobutree, Kraisri Chantra
Cisplatin is a chemotherapeutic agent for many types of cancer. The neurotoxicity of cisplatin includes neuropathy and allodynia. We aimed to study structural changes by using CYM54-78, attenuating cisplatin-induced neuropathy and blocking the pathogenesis in neurons, and promoting axonal regeneration.
-
Cardiovascular autonomic neuropathy in patients with type 2 diabetes with and without sensorimotor polyneuropathy J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-07-14 Emil Peters, Mustapha Itani, Alexander G. Kristensen, Astrid Juhl Terkelsen, Thomas Krøigård, Hatice Tankisi, Troels S. Jensen, Nanna B. Finnerup, Sandra Sif Gylfadottir
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
-
Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-07-14 Arman Çakar, Gulandam Bagırova, Hacer Durmuş, Oya Uyguner, Yeşim Parman
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.
-
Somatosensory profiling of patients undergoing alcohol withdrawal: Do neuropathic pain and sensory loss represent a problem? J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-07-07 Aurore Fernandez, Guillaume Graf, Aurélie Lasserre, Jean-Bernard Daeppen, Paul Chu Sin Chung, Chantal Berna, Marc R. Suter
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
-
Assessing diabetic polyneuropathy in Spanish-speaking patients: Translation and validation of the Toronto Clinical Neuropathy Score J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-24 Juan Francisco Idiáquez Rios, Ignacio Acosta, Alberto Prat, Francesca Gattini, Francisca Pino, Carolina Barnett-Tapia
Diabetic sensorimotor polyneuropathy (DSP) is a common complication of diabetes. The Toronto Clinical Neuropathy Score (TCNS) is a useful tool for detecting DSP. However, it is not available in Spanish. The study aimed to translate and culturally adapt the TCNS and modified (mTCNS) scales into Spanish and evaluate their measurement properties.
-
Serum neurofilament light chain measurements following nerve trauma J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-22 Matthew Wilcox, Melissa L. D. Rayner, Owein Guillemot-Legris, Isobel Platt, Hazel Brown, Tom Quick, James B. Phillips
Optimal functional recovery following peripheral nerve injuries (PNIs) is dependent upon early recognition and prompt referral to specialist centres for appropriate surgical intervention. Technologies which facilitate the early detection of PNI would allow faster referral rates and encourage improvements in patient outcomes. Serum Neurofilament light chain (NfL) measurements are cheaper to perform
-
Plasma neurofilament light chain concentrations are elevated in youth-onset type 2 diabetes and associated with neuropathy J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-21 Vera Fridman, Stefan Sillau, Alanna Ritchie, Jacob Bockhorst, Christina Coughlan, Paula Araya, Joaquin M. Espinosa, Keith Smith, Ethan M. Lange, Leslie A. Lange, Laure El Ghormli, Kimberly L. Drews, Philip Zeitler, Jane E. B. Reusch
The lack of easily measurable biomarkers remains a challenge in executing clinical trials for diabetic neuropathy (DN). Plasma Neurofilament light chain (NFL) concentration is a promising biomarker in immune-mediated neuropathies. Longitudinal studies evaluating NFL in DN have not been performed.
-
Hyaluronidase-facilitated subcutaneous immunoglobulin 10% as maintenance therapy for chronic inflammatory demyelinating polyradiculoneuropathy: The ADVANCE-CIDP 1 randomized controlled trial J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-14 Vera Bril, Robert D. M. Hadden, Thomas H. Brannagan, Michal Bar, Elisabeth Chroni, Konrad Rejdak, Alberto Rivero, Henning Andersen, Norman Latov, Todd Levine, Mamatha Pasnoor, Sabrina Sacconi, Nizar Souayah, Colin Anderson-Smits, Kim Duff, Erin Greco, Shabbir Hasan, Zhaoyang Li, Leman Yel, Hakan Ay
ADVANCE-CIDP 1 evaluated facilitated subcutaneous immunoglobulin (fSCIG; human immunoglobulin G 10% with recombinant human hyaluronidase) efficacy and safety in preventing chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) relapse.
-
Imbalance and lower limb tremor in chronic inflammatory demyelinating polyradiculoneuropathy J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-14 Matthew Silsby, Con Yiannikas, Alessandro F. Fois, Karl Ng, Matthew C. Kiernan, Victor S. C. Fung, Steve Vucic
Imbalance is a prominent symptom of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Although upper limb tremor in CIDP is described, lower limb tremor has not been assessed. The aim of this study was to determine whether lower limb tremor was present in CIDP and assess potential relationships with imbalance.
-
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-12 Andoni Echaniz-Laguna, Cécile Cauquil, Jean-Baptiste Chanson, Céline Tard, Lucie Guyant-Marechal, Thierry Kuntzer, Ioana Maria Ion, Anne-Sophie Lia, Jérôme Bouligand, Vianney Poinsignon
Mutations in the Early-Growth Response 2 (EGR2) gene cause various hereditary neuropathies, including demyelinating Charcot–Marie-Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine–Sottas syndrome (DSS), and axonal CMT (CMT2).
-
CYBA allelic variants are associated with severity and recovery in Guillain–Barré syndrome J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-08 Andreas Törnell, Nina Lagerström, Natalia Mossberg, Roberta Kiffin, Helen Farman, Jan Lycke, Oluf Andersen, Markus Axelsson, Kristoffer Hellstrand, Anna Martner
Guillain–Barré syndrome (GBS) is a rare, acute neuropathy characterized by ascending muscle weakness. Age, axonal GBS variants, and antecedent Campylobacter jejuni infection are associated with severe GBS, but the detailed mechanisms of nerve damage are only partly explored. Pro-inflammatory myeloid cells express NADPH oxidases (NOX) that generate tissue-toxic reactive oxygen species (ROS) that are
-
Nodes of Ranvier in health and disease J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-05 Yael Eshed-Eisenbach, Peter J. Brophy, Elior Peles
Action potential propagation along myelinated axons depends on the geometry of the myelin unit and the division of the underlying axon to specialized domains. The latter include the nodes of Ranvier (NOR), the paranodal junction (PNJ) flanking the nodes, and the adjacent juxtaparanodal region that is located below the compact myelin of the internode. Each of these domains contains a unique composition
-
The autoimmune vulnerability of the node of Ranvier J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-05 Luis Querol, Emilien Delmont, Cinta Lleixà
The nodes of Ranvier (NoR) are essential domains for nerve conduction and their disruption plays a key role in the pathophysiology of immune-mediated neuropathies. Our understanding of the specialized nodal regions and the immune mechanisms that affect them is growing and has led to the update of peripheral neuropathy classification to include the autoimmune nodopathies, defined by the site of the
-
Autoimmune nodo-paranodopathies 10 years later: Clinical features, pathophysiology and treatment J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-05 Antonino Uncini
Autoimmune neuropathies are classified, on the basis of pathophysiology, as demyelinating or axonal. The term nodo-paranodopathy, introduced in 2013 to better categorize the neuropathies with antiganglioside antibodies and later expanded to include neuropathies with antibodies to nodal and paranodal axoglial complexes, characterizes disorders in which the nodal region is critical in the pathogenesis
-
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions. J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-06-04 Katy Eichinger,Steffen Behrens-Spraggins,Janet E Sowden,Davide Pareyson,Mary M Reilly,Steven S Scherer,Michael E Shy,David N Herrmann,
-
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1 J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-30 Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata, Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda
Pathogenic variants of HSPB1, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot–Marie-Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late-onset dHMN carrying the Pro39Leu variant
-
Toxic medications in Charcot–Marie–Tooth patients: A systematic review J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-30 Guido Cavaletti, Katherine Forsey, Paola Alberti
Several widely used medications, with a relevant efficacy profile, are toxic to the peripheral nervous system and an even larger number of agents are suspected to be neurotoxic. There are concerns about the use of these drugs in patients with Charcot–Marie–Tooth disease (CMT), a hereditary motor and sensory neuropathy. This review provides evidence-based updated recommendations on this clinically relevant
-
Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-29 Lorenzo Bresciani, Alessandro Salvalaggio, Elisa Vegezzi, Andrea Visentin, Andrea Fortuna, Mariagiulia Anglani, Mario Cacciavillani, Stefano Masciocchi, Silvia Scaranzin, Miryam Carecchio, Andrea Martinuzzi, Matteo Gastaldi, Chiara Briani
Nodopathies and paranodopathies are autoimmune neuropathies associated with antibodies to nodal–paranodal antigens (neurofascin 140/186 and 155, contactin-1, contactin-associated protein 1 [Caspr1]) characterized by peculiar clinical features, poor response to standard immunotherapies (e.g., intravenous immunoglobulins, IVIg). Improvement after anti-CD20 monoclonal antibody therapy has been reported
-
Abstracts J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-22
COMBINED RNA INTERFERENCE AND GENE REPLACEMENT THERAPY TARGETING MFN2 FOR THE TREATMENT OF CHARCOT-MARIE-TOOTH TYPE 2A" Elena Abati1, Silvia Bono2, Marc-David Ruepp3, Sabrina Salani2, Linda Ottoboni2, Valentina Melzi2, Valeria Parente2, Chiara Cordiglieri4, Sabrina Pagliarani1, Roberta De Gioia2, Alessia Abastasia2, Michela Taiana2, Manuela Garbellini2, Simona Lodato5, Paolo Kunderfranco5, Daniele
-
Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-23 Filippos Stavropoulos, Elena Georgiou, Natasa Schiza, Shaughn Bell, Robert H. Baloh, Kleopas A. Kleopa, Irene Sargiannidou
Mitofusin 1 (MFN1) and MFN2 are outer mitochondrial membrane fusogenic proteins regulating mitochondrial network morphology. MFN2 mutations cause Charcot-Marie-Tooth type 2A (CMT2A), an axonal neuropathy characterized by mitochondrial fusion defects, which in the case of a GTPase domain mutant, were rescued following wild-type MFN1/2 (MFN1/2WT) overexpression. In this study, we compared the therapeutic
-
Changes in axonal and clinical function during intravenous and subcutaneous immunoglobulin therapy in chronic inflammatory demyelinating polyneuropathy J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-22 Peter N. Hansen, Abdullahi A. Mohammed, Lars K. Markvardsen, Henning Andersen, Hatice Tankisi, Søren H. Sindrup, Thomas Krøigård
Intravenous immunoglobulin (IVIg) has a rapid clinical effect which cannot be explained by remyelination during each treatment cycle in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). This study aimed to investigate axonal membrane properties during the IVIg treatment cycle and their potential correlation with clinically relevant functional measurements.
-
Macrophages influence Schwann cell myelin autophagy after nerve injury and in a model of Charcot-Marie-Tooth disease J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-20 Eva Maria Weiß, Miriam Geldermann, Rudolf Martini, Dennis Klein
The complex cellular and molecular interactions between Schwann cells (SCs) and macrophages during Wallerian degeneration are a prerequisite to allow rapid uptake and degradation of myelin debris and axonal regeneration after peripheral nerve injury. In contrast, in non-injured nerves of Charcot-Marie-Tooth 1 neuropathies, aberrant macrophage activation by SCs carrying myelin gene defects is a disease
-
Disease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot–Marie–Tooth disease type 1A J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-20 K. Dinesh, N. White, L. Baker, J. E. Sowden, S. Behrens-Spraggins, E. Wood, J. Charles, D. N. Herrmann, G. Sharma, K. Eichinger
Charcot–Marie–Tooth Disease type 1A (CMT1A), the most common inherited peripheral neuropathy, is characterized by progressive sensory loss and weakness, which results in impaired mobility. Increased understanding of the genetics and pathophysiology of CMT1A has led to development of potential therapeutic agents, necessitating clinical trial readiness. Wearable sensors may provide useful outcome measures
-
DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype–phenotype correlation J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-18 Poornima Jayadev Menon, Petya Bogdanova-Mihaylova, Garret McDermott, Paul Crowley, Ronan P. Killeen, Michael D. Alexander, Sean O'Dowd, Sinéad M. Murphy
Hereditary sensory neuropathy (HSN) 1E is a neurodegenerative disorder caused by pathogenic variants in DNA methyltransferase 1 (DNMT1). It is characterised by sensorineural deafness, sensory neuropathy and cognitive decline. Variants in DNMT1 are also associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy.
-
Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0–7 years J. Peripher. Nerv. Syst. (IF 3.8) Pub Date : 2023-05-11 Tong Tong Wu, Richard S. Finkel, Carly E. Siskind, Shawna M. E. Feely, Joshua Burns, Mary M. Reilly, Francesco Muntoni, Evelin Milev, Timothy Estilow, Michael E. Shy, Sindhu Ramchandren
To evaluate the parent-proxy version of the pediatric Charcot Marie Tooth specific quality of life (pCMT-QOL) outcome instrument for children aged 7 or younger with CMT. We have previously developed and validated the direct-report pCMT-QOL for children aged 8–18 years and a parent proxy version of the instrument for children 8–18 years old. There is currently no CMT-QOL outcome measure for children