Review
Immunology
Jianian Hu, Chongbo Zhao, Jie Lin
Summary: This article systematically lists potential therapeutic strategies targeting different components of the immune system for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), discusses the importance of immunopathology in CIDP, and mentions ongoing clinical trials.
AUTOIMMUNITY REVIEWS
(2022)
Review
Immunology
Kathleen M. Hagen, Shalina S. Ousman
Summary: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease that affects the peripheral nervous system, potentially leading to disability. Patients' age may impact symptoms and functional recovery, especially in older patients. Changes in immune cell populations may play a role in the onset and progression of CIDP.
JOURNAL OF NEUROINFLAMMATION
(2021)
Article
Clinical Neurology
Krista Kuitwaard, Pieter A. van Doorn, Thiziri Bengrine, Wouter van Rijs, Frank Baas, Sietse Q. Nagelkerke, Taco W. Kuijpers, Willem-Jan R. Fokkink, Carina Bunschoten, Merel C. Broers, Sten P. Willemsen, Bart C. Jacobs, Ruth Huizinga
Summary: Variations in PRF1 and the promoter region of FCGR2B are associated with the response to IVIg in CIDP. These findings, which require validation, are a first step towards the understanding of the heterogeneity in the treatment response in CIDP.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
G. Liberatore, F. Manganelli, P. E. Doneddu, D. Cocito, R. Fazio, C. Briani, M. Filosto, L. Benedetti, A. Mazzeo, G. Antonini, G. Cosentino, S. Jann, A. Cortese, G. A. Marfia, A. M. Clerici, G. Siciliano, M. Carpo, M. Luigetti, G. Lauria, T. Rosso, G. Cavaletti, L. Santoro, E. Peci, S. Tronci, M. Ruiz, S. Cotti Piccinelli, A. Schenone, L. Leonardi, A. Toscano, G. Mataluni, E. Spina, L. Gentile, E. Nobile-Orazio
Summary: The study found that in patients with clinical CIDP diagnosis but not meeting EFNS/PNS criteria, multiple abnormal supportive criteria helped to support the diagnosis of CIDP. Increased cerebrospinal fluid proteins and response to immune therapy were the main factors aiding in the diagnosis of CIDP.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
K. Kuitwaard, E. Brusse, B. C. Jacobs, A. F. J. E. Vrancken, F. Eftimov, N. C. Notermans, A. J. van Der Kooi, W. -J. R. Fokkink, D. Nieboer, H. F. Lingsma, I. S. J. Merkies, P. A. van Doorn
Summary: This study found that more frequent lower dosing of IVIg does not improve the efficacy or reduce side effects in stable IVIg-dependent CIDP patients.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Clinical Neurology
Nan Hu, Jingwen Niu, Mingsheng Liu
Summary: This study reviewed the cases of CIDP patients with nephropathy and found that male and sensory-predominant CIDP patients are more likely to develop renal diseases. Corticosteroids remain the first-line treatment for CIDP when complicated with renal diseases.
NEUROLOGICAL SCIENCES
(2022)
Article
Medicine, General & Internal
Lei Ye, Wei Yu, Nai-Zheng Liang, Ying Sun, Li-Fen Duan
Summary: Spinal canal decompression can improve clinical symptoms of HNCE caused by inflammation, even in children. When combined with specific etiological interventions, spinal cord decompression can lead to optimal outcomes.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Review
Medicine, Research & Experimental
Szymon Andrusiow, Zuzanna Pawlak, Bartlomiej Stanczykiewicz, Katarzyna Bogunia-Kubik, Magdalena Koszewicz
Summary: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a common inflammatory neuropathy, particularly among patients with diabetes mellitus. Intravenous immunoglobulin (IVIG) is an effective therapeutic option, although its efficacy may be lower in CIDP patients with coexisting diabetes compared to idiopathic CIDP. Further research and a randomized study are needed to evaluate different treatment approaches for CIDP.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Clinical Neurology
Merel C. Broers, Carina Bunschoten, Judith Drenthen, Tiago A. O. Beck, Esther Brusse, Hester F. Lingsma, Jeffrey A. Allen, Richard A. Lewis, Pieter A. van Doorn, Bart C. Jacobs
Summary: This study reveals a common occurrence of over- and underdiagnosis of CIDP, with diagnostic pitfalls such as lack of attention to proximal muscle weakness, insufficient recognition of clinical atypical phenotypes, overreliance on CSF protein levels, and failure to exclude other causes of polyneuropathy.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Edyta Dziadkowiak, Marta Nowakowska-Kotas, Slawomir Budrewicz, Magdalena Koszewicz
Summary: The diagnosis of CIDP is based on a combination of clinical, electrodiagnostic, and laboratory features. This study aims to evaluate the potential causes of phenotypic variation of CIDP and explore new pathomechanisms. The authors discuss the impact of damage to the JXP, Schwann cells, and axons on CIDP and question whether these damages should be considered separate disease entities. The identification of specific pathomechanisms in CIDP is crucial for diagnosing and treating patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Clinical Neurology
Jianian Hu, Chong Sun, Jiahong Lu, Chongbo Zhao, Jie Lin
Summary: Rituximab was found to be effective in treating CIDP patients, especially in those with anti-IgG4 antibodies. Randomized clinical trials are needed to further investigate the efficacy and safety of rituximab in CIDP patients.
JOURNAL OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Jiafang Fu, Jingli Shan, Yazhou Cui, Chuanzhu Yan, Qinzhou Wang, Jinxiang Han, Guangxiang Cao
Summary: The present study investigated the serum metabolic profile and gut microbiome structure in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). The study found that the metabolism of bile acids and arachidonic acid was disturbed in CIDP patients and was associated with dysbiosis of gut microbial flora. These findings suggest that the combination of bile acids and arachidonic acid could serve as a biomarker for CIDP, and modulation of gut microbiota might impact the clinical course of CIDP.
CELL AND BIOSCIENCE
(2023)
Article
Clinical Neurology
Luuk Wieske, Milou R. Michael, Sjors G. J. G. In't Veld, Allerdien Visser, Ivo N. van Schaik, Filip Eftimov, Charlotte E. Teunissen
Summary: In this study, proximity extension assay was used to identify candidate serum protein biomarkers for disease activity in chronic inflammatory demyelinating polyneuropathy (CIDP). The results suggest that IRAK4, as well as SUGT1, DCTN1, NT5C3A, and GLRX, are potential biomarkers for monitoring clinical disease activity in CIDP.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Review
Clinical Neurology
Richard A. Lewis, Pieter A. van Doorn, Claudia Sommer
Summary: The 2021 guideline by the European Academy of Neurology/Peripheral Nerve Society introduces important revisions to the previous guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). The revised guideline provides more specific clinical and electrodiagnostic criteria for diagnosing CIDP and its variants, aiming to improve diagnostic accuracy. Additional supportive criteria, such as cerebrospinal fluid analysis and nerve biopsy, can be used to upgrade the diagnosis if initial criteria allow only for a diagnosis of possible CIDP.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Malek Mansour, Amine Rachdi, Nesrine Baradai, Amel Kacem, Ines Bedoui, Ridha Mrissa
Summary: CIDP is a rare and polymorphic disorder, and our study is the first in Tunisia and the Maghreb countries to include the largest series of patients. The results were similar to the literature, with good outcomes expected for CIDP patients after treatment.
NEUROLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Sarah Baer, Nicolas Tuzin, Peter B. Kang, Shehla Mohammed, Masaya Kubota, Yvette van Ierland, Tiffany Busa, Massimiliano Rossi, Godelieve Morel, Caroline Michot, Genevieve Baujat, Myriam Durand, Cathy Obringer, Nicolas Le May, Nadege Calmels, Vincent Laugel
Summary: Cockayne syndrome (CS) is a multisystem degenerative disorder with 3 subtypes, including CS2 as the most severe form. Growth failure and difficulties are common features, emphasizing the need for specific growth charts. Retrospective study on CS1 and CS2 patients highlights the importance of specific growth charts for improving nutrition management in these patients.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Editorial Material
Clinical Neurology
Elicia A. Estrella, Peter B. Kang
Article
Biochemistry & Molecular Biology
Chengcheng Li, Dorianmarie Vargas-Franco, Madhurima Saha, Rachel M. Davis, Kelsey A. Manko, Isabelle Draper, Christina A. Pacak, Peter B. Kang
Summary: Biallelic loss-of-function mutations in the MEGF10 gene result in MEGF10 myopathy, characterized by early onset muscle weakness, respiratory distress, and swallowing difficulties. Disruption of MEGF10 impairs muscle regeneration due to defects in satellite cell function, suggesting potential therapeutic implications for treating MEGF10 myopathy and related inherited muscle diseases.
Article
Biochemistry & Molecular Biology
Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E. Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B. Kang, Kerstin Kutsche
Summary: The SMVT transporter plays an important role in the uptake of biotin, pantothenic acid, alpha-lipoic acid, and iodide. Variants in the SLC5A6 gene can result in multisystemic disorders with symptoms such as developmental delay, seizures, and gastrointestinal problems. This study expands the phenotypic spectrum of SLC5A6 variants by identifying motor neuropathies in affected individuals. Targeted therapeutic interventions have shown clinical improvement in most patients.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Laurel Kovalchick, Kameron Bates, Jeffrey Statland, Conrad Weihl, Peter B. Kang, Linda P. Lowes, Tahseen Mozaffar, Volker Straub, Matthew Wicklund, Chad Heatwole, Nicholas E. Johnson
Summary: This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings.
NEUROMUSCULAR DISORDERS
(2022)
Article
Clinical Neurology
Katherin E. Portwood, Mehmet S. Albayram, Sarah Stone, Carla D. Zingariello, John T. Sladky, Harvey Chim, Peter B. Kang
Summary: This study aimed to assess the prognostic capabilities of various diagnostic modalities for childhood brachial plexus injuries (BPIs) and brachial plexus birth injury (BPBI) and postneonatal BPI. The findings suggest that brachial plexus MRI scores and specific electrodiagnostic scores provide the most accurate prognostic information for children with BPI.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2022)
Article
Medicine, General & Internal
Michela Guglieri, Kate Bushby, Michael P. McDermott, Kimberly A. Hart, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Chris Speed, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michelle Eagle, Mary W. Brown, Tracey Willis, Robert C. Griggs
Summary: A double-blind, parallel-group randomized clinical trial was conducted to compare the efficacy and adverse effects of different corticosteroid regimens in boys with Duchenne muscular dystrophy. The study found that daily prednisone and daily deflazacort were more effective than intermittent prednisone for improving motor function, pulmonary function, and satisfaction with treatment over a 3-year period. There was no significant difference between the two daily corticosteroid regimens.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2022)
Review
Clinical Neurology
Dorianmarie Vargas-Franco, Raghav Kalra, Isabelle Draper, Christina A. Pacak, Atsushi Asakura, Peter B. Kang
Summary: The Notch signaling pathway plays a crucial role in skeletal muscle development and regeneration. Recent discoveries of muscle disease genes such as MEGF10, POGLUT1, and JAG2 have shed new light on the relationship between this pathway and muscular disorders. Understanding the functions of these genes and their protein products in the context of the Notch signaling pathway may provide insights into potential therapeutic targets for muscle diseases.
Article
Clinical Neurology
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell-Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvere M. van der Maarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
Summary: Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical testing. This study found that nanopore genomic long-read sequencing can help identify previously undetected pathogenic variants, streamlining genetic diagnostic approaches for muscular dystrophy.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Review
Clinical Neurology
Melissa Maguina, Peter B. Kang, Ang-Chen Tsai, Christina A. Pacak
Summary: Repair of genomic DNA is crucial for maintaining genome health, and defects in this process can lead to various neuropathies.
Editorial Material
Clinical Neurology
Martha D. Carlson, Peter B. Kang
Meeting Abstract
Clinical Neurology
A. Nascimento, C. Bruels, A. Codina, J. Milisenda, C. Li, L. Carrera-Garcia, E. Estrella, J. Pijuan, J. Exposito-Escudero, S. Stafki, L. Martorell, H. Lidov, C. Ortez, F. Palau, B. Darras, C. Jou, L. Kunkel, J. Hoenicka, P. Kang, D. Natera de Benito
NEUROMUSCULAR DISORDERS
(2022)
Meeting Abstract
Clinical Neurology
P. Karachunski, M. Stark, K. McGrattan, C. Weigel, J. Ihinger, P. Kang
NEUROMUSCULAR DISORDERS
(2022)
Article
Medicine, Research & Experimental
Christina A. Pacak, Silveli Suzuki-Hatano, Fatemeh Khadir, Audrey L. Daugherty, Mughil Sriramvenugopal, Bennett J. Gosiker, Peter B. Kang, William Todd Cade
Summary: This study explores the use of acute low intensity aerobic exercise to improve AAV gene delivery strategies. The results demonstrate that one episode of exercise can enhance AAV9 transduction of the heart and skeletal muscle.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Clinical Neurology
Geetanjali Rathore, Peter B. Kang
Summary: The diagnostic and referral workflow for children with neuromuscular disorders is evolving as new therapeutic developments and expanded screening programs are implemented. Accurate anatomical localization and consideration of disease etiologies are crucial in the diagnostic evaluation. Knowledge of current treatment options and participation in clinical research are important for improving the diagnosis and management of these disorders.
PEDIATRIC NEUROLOGY
(2023)
