Article
Clinical Neurology
Gamze Sarikaya Uzan, Atay Vural, Deniz Yuksel, Erhan Aksoy, Ulkuhan Oztoprak, Mehmet Canpolat, Selcan Ozturk, Celebi Yildirim, Ayten Gulec, Huseyin Per, Hakan Gumus, Cetin Okuyaz, Meltem Cobanoullari Direk, Mustafa Kosmur, Aycan Unalp, Unsal Yilmaz, Omer Bektas, Serap Teber, Nargiz Aliyeva, Nihal Olgac Dundar, Pinar Gencpinar, Esra Gurkas, Sanem Keskin Yilmaz, Seda Kanmaz, Hasan Tekgtil, Ayse Aksoy, Gokcen Oz Tuncer, Elif Acar Arslan, Ayse Tosun, Muge Ayanoglu, Ali Burak Kizilirmak, Mohammadreza Yousefi, Muhittin Bodur, Bulent Unay, Semra Hiz Kurul, Uluc Yis
Summary: This study summarized the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. The results showed that first-line immunotherapy modalities (IVIg vs IVIg + steroids) had equal efficacy for the treatment of CIDP patients. MRI features may be associated with clinical features, but did not affect treatment response.
PEDIATRIC NEUROLOGY
(2023)
Review
Neurosciences
Ying Gao, Lingxin Kong, Shan Liu, Kangding Liu, Jie Zhu
Summary: This study examined the role of neurofascin in the peripheral nervous system, particularly in chronic inflammatory demyelinating polyneuropathy, and its mechanisms and effects. By dissecting the role of cell adhesion molecules and the structure of the node of Ranvier, a thorough analysis of the pathogenesis of CIDP was conducted.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Clinical Neurology
Alexandre Jentzer, Arthur Attal, Clemence Roue, Julie Raymond, Cinta Lleixa, Isabel Illa, Luis Querol, Guillaume Taieb, Jerome Devaux
Summary: This study found that monospecific and bivalent anti-Nfasc155 IgG4 antibodies are present in patients and are pathogenic. Transforming these bivalent antibodies into monovalent Fab or IgG4 through FAE significantly reduces paranodal damage.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2022)
Review
Clinical Neurology
Jun-ichi Kira
Summary: CIDP is an immune-mediated demyelinating disease of the PNS, with NF155(+) CIDP characterized by demyelinating lesions in both the CNS and PNS, due to the upregulation of Th2 and Th1 cytokines resulting from IgG4 class switching, leading to spinal root inflammation and lack of macrophage infiltration in sural nerves.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
He Lv, Lingchao Meng, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan
Summary: This study investigated a patient with anti-NF155 CIDP through clinical, electrophysiological, and neuropathological tests, suggesting that antibodies against F155 may disrupt axo-glial junctions leading to myelin and axon dissociation. Both conduction block and axonal impairment contribute to the neuropathy in anti-NF155 CIDP.
CLINICAL NEUROPATHOLOGY
(2021)
Article
Clinical Neurology
Shahar Shelly, Christopher J. Klein, P. James B. Dyck, Pritikanta Paul, Michelle L. Mauermann, Sarah E. Berini, Benjamin Howe, James P. Fryer, Eati Basal, Hammami M. Bakri, Ruple S. Laughlin, Andrew McKeon, Sean J. Pittock, John Mills, Divyanshu Dubey
Summary: The study revealed that patients positive for NF155-IgG4 had distinct clinical and electrodiagnostic features compared to other NF155 antibody isotypes or IgG subclasses, showing unique characteristics. NF155-IgG4-positive patients responded well to immunotherapy and had favorable long-term clinical outcomes.
Article
Clinical Neurology
Meng Dong, Hongfei Tai, Shuo Yang, Xiaozhen Gao, Hua Pan, Zaiqiang Zhang
Summary: This study detected the positive rates of antibodies against nodal-paranodal junction proteins in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and found that patients with anti-NF155 antibodies had more severe nerve damage.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2022)
Article
Clinical Neurology
Julia Gruener, Helena Stengel, Christian Werner, Luise Appeltshauser, Claudia Sommer, Carmen Villmann, Kathrin Doppler
Summary: The study showed a decrease in contactin-1 expression levels and sodium currents in dorsal root ganglion neurons, cerebellar granule neurons, and contactin-1-transfected human embryonic kidney 293 cells after long-term exposure to anti-contactin-1 autoantibodies. However, the sodium channel density remained unchanged. This may be the pathophysiologic basis of sensory ataxia observed in these patients.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2021)
Article
Clinical Neurology
Yuki Fukami, Masahiro Iijima, Haruki Koike, Shinichiro Yamada, Atsushi Hashizume, Masahisa Katsuno
Summary: Serum neurofilament light chain levels are elevated in CIDP patients compared to healthy individuals, and are correlated with clinical disability scores and CSF protein levels. Levels are also higher in CIDP patients with anti-NF155 antibodies. The levels of NfL correlate with axonal degeneration and show potential as a biomarker for active axonal damage in CIDP.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Peter N. N. Hansen, Abdullahi A. A. Mohammed, Lars K. K. Markvardsen, Henning Andersen, Hatice Tankisi, Soren H. Sindrup, Thomas Kroigard
Summary: Motor nerve excitability and S2 accommodation showed temporary changes during IVIg treatment in CIDP patients, but their correlation with clinical improvement remains uncertain.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Immunology
Wanyu Wang, Lingchun Liu, Mingzhi Zhang, Ruihan Yang, Da Liu, Shunyu Yang, Qiang Meng
Summary: This study reports a case of autoimmune nodopathy with both serum and CSF IgG4 anti-NF155 and anti-GD1b antibodies. Treatment with IVIg, rituximab, and plasma exchange led to a decrease in anti-NF155 antibody titer, but the patient's symptoms did not significantly improve.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Monica Alcantara, Hans-Peter Hartung, John-Philip Lawo, Billie L. Durn, Orell Mielke, Vera Bril
Summary: Assessing axonal function before SCIG therapy in CIDP patients can help predict therapy response, with patients with axonal damage potentially having a lower relapse rate on placebo, while non-axonal damage patients may experience more relapse.
CLINICAL NEUROPHYSIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Edyta Dziadkowiak, Marta Waliszewska-Prosol, Marta Nowakowska-Kotas, Slawomir Budrewicz, Zofia Koszewicz, Magdalena Koszewicz
Summary: This article reviews the pathophysiology of different clinical phenotypes of chronic inflammatory demyelinating polyneuropathy (CIDP), as well as ongoing research in this field, with reference to key points of immune-mediated processes involved in the background of CIDP. In recent years, there has been rapid progress in understanding the mechanism and treatment response of CIDP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Ayse Nur Ozdag Acarli, Gokcen Unverengil, Nermin Gorkem Sirin, Arman Cakar, Hacer Durmus, Yesim Parman
Summary: This study examined small-fiber involvement in patients with CIDP and CIDP variants, finding significant reductions in intraepidermal nerve fiber densities compared to healthy controls. The reductions were particularly pronounced in the distal leg and were associated with clinical outcome measures. In clinically unstable CIDP patients, the reductions in nerve fiber densities were more severe.
Article
Clinical Neurology
Wenqing Wang, Chang Liu, Wei Li, Dong Zhang, Yi Shan, Jinfan Zheng, Jingli Shan, Yuying Zhao, Chuanzhu Yan, Qinzhou Wang
Summary: This study investigated the clinical features of Han Chinese patients with anti-neurofascin-155 (NF155) antibody-positive neuropathy. Specific phenotypes were observed in a significant proportion of patients, and there may be ambiguous staining patterns and potential for false positivity.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Review
Oncology
Hannah C. Timmins, David Mizrahi, Tiffany Li, Matthew C. Kiernan, David Goldstein, Susanna B. Park
Summary: Metabolic syndrome and associated conditions have been identified as potential risk factors for chemotherapy-induced peripheral neurotoxicity (CIPN). Obesity and low physical activity may contribute to the development of CIPN. Further research is needed to explore CIPN risk factors and determine if lifestyle changes can improve long-term outcomes for cancer survivors.
JOURNAL OF CANCER SURVIVORSHIP
(2023)
Review
Clinical Neurology
Mansur A. Kutlubaev, Jashelle Caga, Ying Xu, Daria K. Areprintseva, Ekaterina Pervushina, Matthew C. Kiernan
Summary: This study aimed to determine the frequency and correlates of apathy in ALS and its impact on the disease prognosis. The findings suggest that the emergence of apathy is associated with cognitive decline and bulbar onset of the disease. Additionally, ALS patients with apathy showed more prominent changes in structural and functional brain imaging. Apathy worsened the long-term prognosis of ALS.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Andrew Hannaford, Karen Byth, Nathan Pavey, Robert D. Henderson, Susan Mathers, Merrilee Needham, David Schultz, Parvathi Menon, Matthew C. Kiernan, Steve Vucic
Summary: This study aimed to assess the utility of clinical biomarkers, such as Delta FS and BMI, and neurophysiological measures, such as SI and NPI, in monitoring disease progression in ALS patients. The results showed that Delta FS and BMI were predictive of disease severity and progression, while SI and NPI were associated with disease severity. The implementation of these biomarkers could assist in patient management and stratification into clinical trials.
Article
Clinical Neurology
Matthew Silsby, Alessandro F. Fois, Con Yiannikas, Karl Ng, Matthew C. Kiernan, Victor S. C. Fung, Steve Vucic
Summary: This study aimed to evaluate tremor in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and test the hypothesis that tremor occurs due to mistimed peripheral inputs affecting central motor processing, as established in other demyelinating neuropathies. Additionally, the tremor stability index (TSI) was calculated to assess the variability of CIDP-related tremor compared to other tremor disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Eduardo Martinez-Valdes, Roger M. Enoka, Ales Holobar, Kevin McGill, Dario Farina, Manuela Besomi, Francois Hug, Deborah Falla, Richard G. Carson, Edward A. Clancy, Catherine Disselhorst-Klug, Jaap H. van Dieen, Kylie Tucker, Simon Gandevia, Madeleine Lowery, Karen Sogaard, Thor Besier, Roberto Merletti, Matthew C. Kiernan, John C. Rothwell, Eric Perreault, Paul W. Hodges
Summary: The analysis of single motor unit (SMU) activity is crucial for understanding the neural strategies controlling muscle force. Traditionally, this analysis has been done invasively through intramuscular electromyography (EMG), but recent advances in signal processing techniques have enabled the identification of SMU activity in high-density surface electromyography (HDsEMG) recordings.
JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY
(2023)
Review
Clinical Neurology
Sean W. Willemse, Peter Harley, Ruben P. A. van Eijk, Koen C. Demaegd, Pavol Zelina, R. Jeroen Pasterkamp, Philip van Damme, Caroline Ingre, Wouter van Rheenen, Jan H. Veldink, Matthew C. Kiernan, Ammar Al-Chalabi, Leonard H. van den Berg, Pietro Fratta, Michael A. van Es
Summary: Amyotrophic lateral sclerosis (ALS) is a deadly neurodegenerative disease with limited treatment options. A specific gene polymorphism in the UNC13A gene has been found to increase the risk of ALS and frontotemporal dementia (FTD), and can modify the disease phenotype in ALS patients. UNC13A is involved in maintaining synaptic active zones and its depletion leads to impaired neurotransmission. Recent discoveries have identified UNC13A as a potential therapeutic target, with ongoing trials using lithium carbonate and considering antisense oligonucleotides. Knowledge of UNC13A's distinct phenotype is important for future clinical trials.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Neuroimaging
Nga Yan Tse, Martina Bocchetta, Emily G. Todd, Emma M. Devenney, Sicong Tu, Jashelle Caga, John R. Hodges, Glenda M. Halliday, Muireann Irish, Matthew C. Kiernan, Olivier Piguet, Jonathan D. Rohrer, Rebekah M. Ahmed
Summary: Through studying a large sample of 211 participants, it was found that different subregions of the hypothalamus are correlated with cognitive and behavioral impairments. Patients with ALS, mixed ALS-FTD, and bvFTD all showed hypothalamic involvement. Cognitive and behavioral symptoms were correlated with bilateral involvement of the anterior inferior, anterior superior, and posterior hypothalamic subregions. The anterior superior and superior tuberal subregions displayed the greatest volume loss in bvFTD and ALS-FTD, and ALS, respectively, and were associated with specific neuropeptide expression abnormalities.
NEUROIMAGE-CLINICAL
(2023)
Letter
Clinical Neurology
Michelle A. Farrar, Matthew C. Kiernan, Didu S. Kariyawasam
Article
Clinical Neurology
Parvathi Menon, Nathan Pavey, Aman S. Aberra, Mehdi A. J. van den Bos, Ruochen Wang, Matthew C. Kiernan, Angel Peterchev, Steve Vucic
Summary: The aim of this study was to investigate the effects of different combinations of TMS pulse width and pulse shape on cortical strength-duration time constant (SDTC) and rheobase measurements. The results showed that the M-ratio had a significant effect on SDTC, with longer durations for higher M-ratios. Rheobase was smaller for higher M-ratios. The most consistent values of SDTC and rheobase were obtained with specific sets of pulse widths. Simulation studies indicated that changes in transient Na' channel conductance could account for the changes in SDTC.
CLINICAL NEUROPHYSIOLOGY
(2023)
Editorial Material
Clinical Neurology
Matthew C. C. Kiernan, Susanna B. B. Park
Article
Clinical Neurology
Yue Yang, Dominic Rowe, Heather McCann, Claire E. Shepherd, Jillian J. Kril, Matthew C. Kiernan, Glenda M. Halliday, Rachel H. Tan
Summary: This study compared the pathology of ALS patients who received CuATSM and riluzole with those who only received riluzole, and found no significant difference in neuron density or TDP-43 burden. However, CuATSM treatment led to the presence of p62-immunoreactive astrocytes in the motor cortex and reduced Iba1 density in the spinal cord. There was no significant difference in astrocytic activity and SOD1 immunoreactivity with CuATSM treatment.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Neurosciences
Nathan Pavey, Parvathi Menon, Mehdi A. J. van den Bos, Matthew C. Kiernan, Steve Vucic
Summary: A complex interaction of inhibitory and facilitatory interneuronal processes may underlie the development of cortical excitability. The study utilized threshold tracking transcranial magnetic stimulation to assess cortical excitability with different coil orientations. Significant effects of coil orientation were observed on short interval intracortical inhibition (SICI) and facilitation (SICF). The results suggest that distinct interneuronal processes are recruited with variable cortical orientation and thresholds.
NEUROSCIENCE LETTERS
(2023)
Article
Multidisciplinary Sciences
Lyndal Henden, Liam G. Fearnley, Natalie Grima, Emily P. McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B. Rowe, Susan D'Silva, John B. Kwok, Glenda M. Halliday, Matthew C. Kiernan, Srestha Mazumder, Hannah C. Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P. Blair, Kelly L. Williams
Summary: In this study, we analyzed whole-genome sequencing data from 608 patients with sporadic ALS, 68 patients with sporadic FTD, and 4703 matched controls using three tools. We found that 17.6% of clinically diagnosed ALS and FTD cases had expanded STR alleles reported to be pathogenic or intermediate for other neurodegenerative diseases, providing evidence for their contribution to the development of these diseases. We also identified multiple disease-relevant STR expansions associated with neurodegenerative diseases, highlighting the clinical and pathological pleiotropy of neurodegenerative disease genes and their importance in ALS and FTD.
Article
Clinical Neurology
Nathan Pavey, Andrew Hannaford, Mana Higashihara, Mehdi van den Bos, Matthew C. Kiernan, Parvathi Menon, Steve Vucic
Summary: The split hand index (SI) derived by different methods showed potential as a diagnostic biomarker in ALS, with SICMAP amp and SIMScanFit-MUNE demonstrating greater utility in distinguishing ALS from mimic disorders.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Matthew Silsby, Con Yiannikas, Alessandro F. Fois, Marina L. Kennerson, Matthew C. Kiernan, Victor S. C. Fung, Steve Vucic
Summary: Neuropathic tremor is a common clinical feature in CMT1A, with distinct characteristics compared to essential tremor. Upper limb tremors were postural and kinetic, while lower limb tremors were postural and orthostatic. The frequency of upper limb tremors varied along the limb, with a lower frequency distally and a higher frequency proximally. Lower limb tremors had a consistent frequency and were unaffected by fatigue. Postural lower limb tremor was associated with imbalance.
JOURNAL OF NEUROLOGY
(2023)