Article
Biochemistry & Molecular Biology
Eftekhar Eftekharpour, Paul Fernyhough
Summary: This review discusses the significant role of ROS in the peripheral nervous system in the context of type 1 diabetes, highlighting the impact of hyperglycemia on driving ROS production and oxidative stress contributing to neurodegeneration. It also emphasizes the importance of understanding diabetes-induced changes in autophagy, ER function, and mitochondrial dysfunction for future research directions in diabetic neuropathy.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Cardiac & Cardiovascular Systems
Christian S. Hansen, Daniel G. K. Rasmussen, Tine W. Hansen, Signe Holm Nielsen, Simone Theilade, Morten A. Karsdal, Federica Genovese, Peter Rossing
Summary: This study identified previously undescribed associations between markers of collagen turnover and the risk of cardiovascular autonomic neuropathy and distal symmetrical polyneuropathy in patients with type 1 diabetes.
CARDIOVASCULAR DIABETOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Kyong-hwa Kang, Ji Eun Han, Hyunjin Kim, Sohee Kim, Young Bin Hong, Jeanho Yun, Soo Hyun Nam, Byung-Ok Choi, Hyongjong Koh
Summary: Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral nerve disorders characterized by muscle weakness, sensory loss, foot deformities and gait abnormalities. Missense mutations in the HSPB8 gene have been associated with hereditary neuropathies, including CMT. In this study, HSPB8 mutant-induced neuropathies were modeled in Drosophila, revealing motor defects and mitochondrial dysfunction. The motor defects and mitochondrial dysfunction were restored by PINK1 and parkin, as well as a small molecule called kinetin riboside.
Article
Clinical Neurology
Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima
Summary: This study identified causative mutations in mitochondrial-related nuclear genes in suspected hereditary peripheral neuropathy patients. Whole-exome sequencing was performed on a large cohort of Japanese patients, and novel pathogenic variants were detected in four mitochondrial-related nuclear genes. These patients exhibited sensory and motor axonal polyneuropathy, along with central nervous system or multisystem involvements.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Allison Jordan, Arun Nagaraj, J. Chad Hoyle, Amro Maher Stino, W. David Arnold, Bakri Elsheikh
Summary: This study investigated the association between peripheral neuropathy and CK elevation, finding that 20.4% of patients with peripheral neuropathy had hyperCKemia. Among them, 13.5% had a concomitant etiology explaining the CK elevation, while 6.9% had no other identifiable cause beyond the neuropathy. The frequency of cramping was higher in patients with elevated CK levels.
FRONTIERS IN NEUROLOGY
(2021)
Article
Oncology
Aina Calls, Abel Torres-Espin, Xavier Navarro, Victor J. Yuste, Esther Udina, Jordi Bruna
Summary: The study used single-cell RNA sequencing to investigate the transcriptomic profile of sensory neurons in a CIPN mouse model, revealing that cisplatin treatment upregulates biological pathways related to DNA damage response in DRG neurons. Following cisplatin-induced DNA damage, DRG neurons exhibited senescence hallmarks without activation of apoptosis pathways.
Article
Medicine, General & Internal
Jae-Gyeong Jeong, Chang-Hwan Ahn, Yu-Sun Min, Sung Eun Kim, Ji Yoon Kim, Tae-Du Jung
Summary: Acute lymphocytic leukemia (ALL) is a common childhood cancer. Vincristine is a representative drug used in the multi-drug chemotherapy treatment for ALL. This study focused on children under 18 who received vincristine-containing chemotherapy. It was found that peripheral neuropathy was predominantly induced by vincristine, with an average cumulative dose of 14.99 +/- 1.21 mg/m(2).
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Ryosuke Shirakawa, Takayuki Nakajima, Aya Yoshimura, Yukako Kawahara, Chieko Orito, Miwako Yamane, Haruka Handa, Shingo Takada, Takaaki Furihata, Arata Fukushima, Naoki Ishimori, Masao Nakagawa, Isao Yokota, Hisataka Sabe, Satoshi Hashino, Shintaro Kinugawa, Takashi Yokota
Summary: Systemic inflammation is associated with the link between obesity and nonalcoholic fatty liver disease (NAFLD). In this study, researchers investigated changes in leukocytes' mitochondria in obese individuals and their correlation with NAFLD. The findings suggest that obese individuals have increased mitochondrial respiratory capacity in peripheral blood mononuclear cells (PBMCs), and this enhanced oxidative metabolism is associated with hepatic steatosis in obese young adults.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Amy E. Rumora, Bhumsoo Kim, Eva L. Feldman
Summary: Peripheral neuropathy (PN) is the most prevalent complication of diabetes and prediabetes, characterized by progressive sensory loss due to nerve damage. Dyslipidemia, a component of metabolic syndrome, is strongly associated with PN in type 2 diabetes (T2D) and prediabetes. Fatty acids (FAs) have been implicated in PN pathogenesis, with saturated and unsaturated FAs showing differential effects on nerve lipid profile and function.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Genetics & Heredity
Liqing Chen, Yan Liu
Summary: In this study, a patient with developmental delay, ataxia, hypotonia, dysarthria, strabismus, visual impairment and areflexia was described. Whole-exome sequencing analysis revealed compound heterozygous mutations of the COX20 gene in the patient. The patient's symptoms expand the clinical presentation of COX20-related mitochondrial disorders caused by similar mutations.
BMC MEDICAL GENOMICS
(2023)
Article
Chemistry, Multidisciplinary
Yangxue Yao, Xiaoyu Lei, Yun Wang, Geru Zhang, Hongxiao Huang, Yuxuan Zhao, Sirong Shi, Yang Gao, Xiaoxiao Cai, Shaojingya Gao, Yunfeng Lin
Summary: Diabetic peripheral neuropathy (DPN) is a major late complication of diabetes, and dysfunctional mitochondria are the key therapeutic target. In this study, a tetrahedral framework nucleic acid carrier was used to encapsulate resveratrol, resulting in enhanced stability and bioavailability. The tFNAs-RSV complex showed promising therapeutic effects in vitro and in mice models of DPN by regulating redox and energy metabolism.
Review
Clinical Neurology
Silvia Masnada, Roberto Previtali, Paola Erba, Elena Beretta, Anna Camporesi, Luisa Chiapparini, Chiara Doneda, Maria Iascone, Marco U. A. Sartorio, Luigina Spaccini, Pierangelo Veggiotti, Maurizio Osio, Davide Tonduti, Isabella Moroni
Summary: Mutation in the FDXR gene causes a rare neurological disorder with variable phenotypes. Symptoms include optic and/or auditory neuropathy, developmental delay or regression, hypotonia, pyramidal and cerebellar signs, and seizures. A systematic review shows a high incidence of sensorimotor peripheral polyneuropathy and ataxia in previous cases.
NEUROLOGICAL SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Delia Tulba, Bogdan Ovidiu Popescu, Emilia Manole, Cristian Baicus
Summary: Immune axonal neuropathies are a specific group of immune-mediated neuropathies that can be associated with systemic autoimmune rheumatic diseases. They have diverse clinical presentations and courses, with delayed diagnosis and treatment initiation being common issues. Further high-quality clinical research is needed to provide guidance for the treatment of immune axonal neuropathies related to systemic autoimmune rheumatic diseases.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Bo Pang, Lu-Lu Zhang, Bin Li, Feng-Xian Sun, Zhi-Da Wang
Summary: This study found that bone morphogenetic protein 5 (BMP5) can prevent the development of diabetic peripheral neuropathy by maintaining Smad1/5/9-mediated mitochondrial function.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Clinical Neurology
Nilo Riva, Francesco Gentile, Federica Cerri, Francesca Gallia, Paola Podini, Giorgia Dina, Yuri Matteo Falzone, Raffaella Fazio, Christian Lunetta, Andrea Calvo, Giancarlo Logroscino, Giuseppe Lauria, Massimo Corbo, Sandro Iannaccone, Adriano Chio, Alberto Lazzerini, Eduardo Nobile-Orazio, Massimo Filippi, Angelo Quattrini
Summary: This study aimed to define the TDP-43/pTDP-43 pathology and evaluate its potential as a tissue biomarker for amyotrophic lateral sclerosis (ALS) and non-ALS cases, by using diagnostic motor nerve biopsies from patients with lower motor neuron syndrome. The researchers found that pTDP-43 aggregates were present in the peripheral nervous system of ALS patients, even in cases with normal features at standard histopathological analysis, suggesting that pTDP-43 aggregation is an early event that may contribute to ALS pathogenesis.
Review
Clinical Neurology
Melissa R. Mandarakas, Kristy J. Rose, Oranee Sanmaneechai, Manoj P. Menezes, Kathryn M. Refshauge, Joshua Burns
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2018)
Article
Clinical Neurology
Manoj Kanhangad, Kayla Cornett, Megan H. Brewer, Garth A. Nicholson, Monique M. Ryan, Robert L. Smith, Gopinath M. Subramanian, Helen K. Young, Stephan Zuchner, Marina L. Kennerson, Joshua Burns, Manoj P. Menezes
Article
Clinical Neurology
Kayla M. D. Cornett, Elizabeth Wojciechowski, Amy D. Sman, Terri Walker, Manoj P. Menezes, Paula Bray, Mark Halaki, Joshua Burns, Melissa R. Mandarakas, Kristy J. Rose, Jennifer Baldwin, Marnee J. McKay, Kathryn M. Refshauge, Jacqueline Raymond, Hugo Sampaio, Anita Mudge, Leanne Purcell, Clare Miller, Kelly Gray, Meghan Harman, Natalie Gabrael, Robert A. Ouvrier
Correction
Clinical Neurology
Melissa R. Mandarakas, Manoj P. Menezes, Kristy J. Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M. Ryan, Eppie M. Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina W. Yum, David N. Herrmann, Gyula Acsadi, Michael E. Shy, Joshua Burns, Oranee Sanmaneechai
Article
Clinical Neurology
Esther M. Tantsis, Kristina Prelog, Gulay Alper, Leslie Benson, Mark Gorman, Ming Lim, Shekeeb S. Mohammad, Sudarshini Ramanathan, Fabienne Brilot, Russell C. Dale
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2019)
Review
Orthopedics
Elizabeth Wojciechowski, Angela Y. Chang, Daniel Balassone, Jacqueline Ford, Tegan L. Cheng, David Little, Manoj P. Menezes, Sean Hogan, Joshua Burns
JOURNAL OF FOOT AND ANKLE RESEARCH
(2019)
Article
Clinical Neurology
Timothy Estilow, Allan M. Glanzman, Joshua Burns, Ann Harrington, Kayla Cornett, Manoj P. Menezes, Rosemary Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Kate J. Eichinger, David N. Herrmann, Gregory Troutman, Paula Bray, Mark Halaki, Michael E. Shy, Sabrina W. Yum, Kayla M. D. Cornett, Manoj P. Menezes, Robert Ouvrier, Gyula Acsadi, Rosemary R. Shy, Daniela Calabrese, Maria Foscan, Roberta Sala, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Timothy Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, MatilDe laura, Mary M. Reilly, Richard S. Finkel, Kate J. Eichinger, David N. Herrmann, Paula Bray, Kristy Rose, Mark Halaki, Julie Pallant, Monkol Lek, Michael E. Shy, Joshua Burns
Article
Clinical Neurology
Ting Lin, Paul Gibbons, Anita J. Mudge, Kayla M. D. Cornett, Manoj P. Menezes, Joshua Burns
NEUROMUSCULAR DISORDERS
(2019)
Article
Neurosciences
Fiona Tea, Joseph A. Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona X. Z. Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M. Tantsis, Eppie M. Yiu, Steve Vucic, Andrew P. D. Henderson, Anthony Fok, Clare L. Fraser, Jeanette Lechner-Scott, Stephen W. Reddel, Simon Broadley, Michael H. Barnett, David A. Brown, Jan D. Lunemann, Russell C. Dale, Fabienne Brilot, Adriane Sinclair, Allan G. Kermode, Andrew Kornberg, Annie Bye, Benjamin McGettigan, Benjamin Trewin, Bruce Brew, Bruce Taylor, Chris Bundell, Christina Miteff, Christopher Troedson, Clair Pridmore, Claire Spooner, Con Yiannikas, Cullen O'Gorman, Damian Clark, Dan Suan, Dean Jones, Dean Kilfoyle, Deepak Gill, Denis Wakefield, Dirk Hofmann, Emily Mathey, Gina O'Grady, Hannah F. Jones, Heidi Beadnall, Helmut Butzkueven, Himanshu Joshi, Ian Andrews, Ian Sutton, Jennifer MacIntyre, Jennifer M. Sandbach, Jeremy Freeman, John King, John H. O'Neill, John Parratt, Joshua Barton, Justin Garber, Kate Ahmad, Kate Riney, Katherine Buzzard, Kavitha Kothur, Laurence C. Cantrill, Manoj. P. Menezes, Mark A. Paine, Mark Marriot, Mahtab Ghadiri, Michael Boggild, Mitchell Lawlor, Monica Badve, Monique Ryan, Muhammed Aaqib, Neil Shuey, Nerissa Jordan, Nicholas Urriola, Nicholas Lawn, Owen White, Pamela McCombe, Rakesh Patel, Richard Leventer, Richard Webster, Robert Smith, Sachin Gupta, Shekeeb S. Mohammad, Sekhar Pillai, Simon Hawke, Sumu Simon, Sophie Calvert, Stefan Blum, Stephen Malone, Suzanne Hodgkinson, Tina K. Nguyen, Todd A. Hardy, Tomas Kalincik, Tyson Ware, Victor S. C. Fung, William Huynh
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2019)
Article
Pediatrics
Michelle S. Lorentzos, Isobel Heyman, Benjamin J. Baig, Anna E. Coughtrey, Andrew McWilliams, David R. Dossetor, Mary-Clare Waugh, Ruth A. Evans, Josie Hollywood, Joshua Burns, Manoj P. Menezes, Shekeeb S. Mohammad, Padraig Grattan-Smith, Kathleen M. Gorman, Belinda H. A. Crowe, Robert Goodman, Manju A. Kurian, Russell C. Dale
Summary: Psychiatric comorbidity is common in non-tic movement disorders such as dystonia, but is often under-recognized and undertreated.
ARCHIVES OF DISEASE IN CHILDHOOD
(2021)
Article
Clinical Neurology
Georgina M. Chambers, Stella Nalukwago Settumba, Kate A. Carey, Anita Cairns, Manoj P. Menezes, Monique Ryan, Michelle A. Farrar
Article
Clinical Neurology
Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2020)
Article
Clinical Neurology
Herminia Argente-Escrig, Joshua Burns, Gabrielle Donlevy, Marina Frasquet, Kayla Cornett, Teresa Sevilla, Manoj P. Menezes
Summary: This study describes the clinical and genetic profile of pediatric distal hereditary motor neuropathy (dHMN) and evaluates the utility of a validated outcome measure for children with Charcot-Marie-Tooth disease (CMT) in assessing disability in this cohort. The study found that the CMTPedS scale has distinct functional limitations when used in children and adolescents with dHMN, highlighting the need for tailored assessment tools for this population.
Article
Clinical Neurology
Menelaos Pipis, Shawna M. E. Feely, James M. Polke, Mariola Skorupinska, Laura Perez, Rosemary R. Shy, Matilde Laura, Jasper M. Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E. Lloyd, Gyula Acsadi, Sabrina W. Yum, Richard A. Lewis, Richard S. Finkel, David N. Herrmann, John W. Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E. Johnson, Stephan Zuchner, Davide Pareyson, Steven S. Scherer, Alexander M. Rossor, Michael E. Shy, Mary M. Reilly
Summary: The study of 196 CMT2A patients (including dominant and recessive) found that childhood onset of autosomal dominant CMT2A is associated with more severe disease severity compared to adult onset, with significantly higher rates of using orthoses, wheelchairs, dexterity difficulties, and higher CMT Examination Score and CMT Neuropathy Score at initial assessment. Longitudinal data analysis showed significant increases in CMTESv2 and CMTESv2-R over 1-2 years, providing guidance for prognosis and clinical trial design.
Article
Orthopedics
Leanne N. Dwan, Paul Gibbons, Kamal Jamil, David Little, Oliver Birke, Manoj P. Menezes, Joshua Burns
Summary: This study identified reliable and sensitive radiographic measures for hip dysplasia in children with Charcot-Marie-Tooth disease, which can be prioritized for hip screening to mitigate the deleterious effects of hip dysplasia, pain, and disability in adulthood.