Article
Genetics & Heredity
Valentina Pegoraro, Corrado Angelini
Summary: This study aimed to determine the value of miR-206 in detecting muscle disease evolution in LGMD patients. It found that miR-206 expression levels were significantly elevated in patients with severe disease progression, suggesting its potential as a prognostic indicator for LGMD.
Article
Radiology, Nuclear Medicine & Medical Imaging
Tara Barwick, Matthew Orton, Dow Mu Koh, Martin Kaiser, Andrea Rockall, Nina Tunariu, Matthew Blackledge, Christina Messiou
Summary: Intra- and inter-reader variability of ADC measurements in focal myeloma bone lesions showed excellent agreement, while FF measurements were significantly affected by lesion size, with poorer repeatability in smaller lesions.
BRITISH JOURNAL OF RADIOLOGY
(2021)
Article
Health Care Sciences & Services
Fernando Arreola, Benjamin Salazar, Antonio Martinez
Summary: This study analyzed the viability of asymmetry-related measures as potential biomarkers for early diagnosis of Alzheimer's Disease. The results showed that these measures differentiated themselves temporally before most of the other evaluated biomarkers, suggesting the need for further studies to confirm these findings.
Article
Oncology
Gaurav Agarwal, Guido Nador, Sherin Varghese, Hiwot Getu, Charlotte Palmer, Edmund Watson, Claudio Pereira, Germana Sallemi, Karen Partington, Neel Patel, Rajkumar Soundarajan, Rebecca Mills, Richard Brouwer, Marina Maritati, Aarti Shah, Delia Peppercorn, Udo Oppermann, Claire M. Edwards, Christopher T. Rodgers, Muhammad Kassim Javaid, Sarah Gooding, Karthik Ramasamy
Summary: This study explores the value of novel serum bone turnover and plasma cell burden markers and Diffusion-Weighted Magnetic Resonance Imaging (DW-MRI) in patients with multiple myeloma (MM), monoclonal gammopathy of undetermined significance (MGUS), and smoldering MM (SMM). The results show potential correlations between serum DKK1 and BCMA with tumor burden, and serum sclerostin with bone mineral density. In addition, DW-MRI is validated for longitudinal assessment of tumor volume. The findings highlight the importance of further exploration and validation of these biomarkers in larger cohorts to improve clinical management of plasma cell dyscrasias.
Review
Clinical Neurology
Thilo van Eimeren, Kathrin Giehl, Kathrin Reetz, Cristina Sampaio, Tiago A. Mestre
Summary: Neuroimaging biomarkers play an important role in Huntington's disease clinical trials, but reliable biomarkers are still relatively scarce. The results of the study show that MRI-based volumetric analysis of the caudate and putamen is currently the most feasible biomarker for early disease stages.
PARKINSONISM & RELATED DISORDERS
(2023)
Review
Biochemistry & Molecular Biology
Marianna Gabriella Rispoli, Silvia Valentinuzzi, Giovanna De Luca, Piero Del Boccio, Luca Federici, Maria Di Ioia, Anna Digiovanni, Eleonora Agata Grasso, Valeria Pozzilli, Alessandro Villani, Antonio Maria Chiarelli, Marco Onofrj, Richard G. Wise, Damiana Pieragostino, Valentina Tomassini
Summary: Metabolomics-based technologies have the potential to serve as early indicators of neurological conditions, particularly in multiple sclerosis (MS), and as tools for diagnosis and treatment monitoring. Researchers have identified promising biomarkers and metabolic pathways through pathway analysis of metabolites, which could pave the way for novel research avenues.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Shokufeh Sadaghiani, Winifred Trotman, Sydney A. Lim, Eunice Chung, Ranjit Ittyerah, Sadhana Ravikumar, Pulkit Khandelwal, Karthik Prabhakaran, Madigan L. Lavery, Daniel T. Ohm, Marianna Gabrielyan, Sandhitsu R. Das, Theresa Schuck, Noah Capp, Claire S. Peterson, Elyse Migdal, Emilio Artacho-Perula, Maria Del Mar Arroyo Jimenez, Maria Del Pilar Marcos Rabal, Sandra Cebada Sanchez, Carlos de la Rosa Prieto, Marta Corcoles Parada, Ricardo Insausti, John L. Robinson, Corey McMillan, Murray Grossman, Edward B. Lee, John A. Detre, Sharon X. Xie, John Q. Trojanowski, M. Dylan Tisdall, Laura E. M. Wisse, David J. Irwin, David A. Wolk, Paul A. Yushkevich
Summary: This study used MRI technology to investigate the relationship between brain loss and pathology in patients with neurodegenerative disorders, finding tissue loss in multiple AD regions. The research provides insight into the interpretation of in vivo structural MRI studies in patients with AD spectrum disorders.
ALZHEIMERS & DEMENTIA
(2022)
Article
Clinical Neurology
Lais U. Aivazoglou, Julio B. Guimaraes, Maria Alice F. Costa, Andre Yui Aihara, Fabiano N. Cardoso, Wladimir B. V. De R. Pinto, Paulo Victor S. de Souza, Andre M. S. da Silva, Edmar Zanoteli, Acary S. B. Oliveira, Alzira A. S. Carvalho, Artur Da R. C. Fernandes
Summary: This study aimed to correlate MRI findings with functional scores and describe the WBMRI pattern in a Brazilian cohort of LGMDR1 patients. The results showed that the involvement of paraspinal muscles, including the lumbar erector spinae, was more severe in these patients, with a striped appearance present in approximately 72% of them. There was a positive correlation between MRI scores and functional scores. The study suggests that WBMRI can provide a comprehensive evaluation of LGMDR1 patients and may be useful for diagnostic and outcome measure selection in clinical trials.
Article
Neurosciences
Lorna Bryant, Emilie T. McKinnon, James A. Taylor, Jens H. Jensen, Leonardo Bonilha, Christophe de Bezenac, Barbara A. K. Kreilkamp, Guleed Adan, Udo C. Wieshmann, Shubhabrata Biswas, Anthony G. Marson, Simon S. Keller
Summary: This study utilized FBI and FBWM to evaluate the diffusion properties of white matter tracts in patients with epilepsy. It was found that patients with chronic epilepsy had a widespread distribution of extra-axonal diffusivity, and those with refractory epilepsy exhibited significantly greater markers of extra-axonal diffusivity compared to nonrefractory epilepsy patients. These findings suggest that extra-axonal diffusivity alterations may serve as biomarkers of neuroinflammatory processes or reduced axonal density in epilepsy.
HUMAN BRAIN MAPPING
(2021)
Article
Clinical Neurology
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Summary: Quantitative MRI measurements can serve as sensitive and objective biomarkers for evaluating disease progression and functional changes in boys with DMD.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Kirsi M. Kinnunen, Adam J. Schwarz, Emily C. Turner, Dorian Pustina, Emily C. Gantman, Mark F. Gordon, Richard Joules, Ariana P. Mullin, Rachael Scahill, Nellie Georgiou-Karistianis
Summary: Huntington's disease is a neurodegenerative disorder caused by expansion of a CAG-repeat tract in the huntingtin gene, leading to motor impairment, cognitive decline, and neuropsychiatric disturbances. The HD Regulatory Science Consortium aims to address regulatory needs and accelerate therapeutic development for HD. Regional brain volumes are reduced in HD and correlated with disease characteristics, providing valuable information for evaluating treatment effects on neurodegeneration.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Roberta Costa, Maria Teresa Rodia, Serafina Pacilio, Corrado Angelini, Giovanna Cenacchi
Summary: Limb-girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of diseases. This review focuses on LGMD D2 TNPO3-related disease, caused by mutations in the TNPO3 gene, and describes the clinical features, genetic and histopathological findings, as well as hypotheses for the underlying pathological mechanisms.
FRONTIERS IN NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Summary: Limb-girdle muscular dystrophies (LGMD) are characterized by clinically and genetically diverse presentations of predominantly proximal muscle weakness. Beta-sarcoglycanopathy (LGMDR4) is caused by biallelic defects in the SGCB gene and features pediatric onset with limb-girdle involvement, often accompanied by respiratory and heart dysfunction. In this study, a patient with high creatine kinase levels and cramps after strenuous exercise was diagnosed with beta-sarcoglycanopathy based on instrumental investigations. NGS panel sequencing revealed two variants in the SGCB gene, one of which (c.243+1548T>C) promoted the inclusion of a pseudoexon in the SGCB transcript. Interestingly, the same genotype was identified in a previously reported LGMDR4 patient. By delivering morpholino oligomers targeting the pseudoexon in patient-specific induced pluripotent stem cells, the researchers observed correction of splicing and partial restoration of protein levels. These findings highlight the importance of analyzing the c.243+1548T>C variant in suspected LGMDR4 patients, especially those with monoallelic SGCB variants, and demonstrate the efficacy of antisense technology in correcting splicing defects resulting from molecular defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neuroimaging
Kaitlin M. Stouffer, Claire Chen, Sue Kulason, Eileen Xu, Menno P. Witter, Can Ceritoglu, Marilyn S. Albert, Susumu Mori, Juan Troncoso, Daniel J. Tward, Michael I. Miller
Summary: This study found that besides the medial temporal lobe, other brain regions are also affected by AD pathology during its early phases. The atrophy rate of the amygdala was significantly higher in individuals with MCI and DAT compared to cognitively unimpaired controls. The results suggest that the amygdalar atrophy rate measured through MRI may be a viable biomarker for AD.
NEUROIMAGE-CLINICAL
(2023)
Article
Neuroimaging
Nadine Anniek van de Zande, Marjolein Bulk, Chloe Najac, Louise van der Weerd, Jeroen de Bresser, Jan Lewerenz, Itamar Ronen, Susanne Tamara de Bot
Summary: This study aims to link the quantitative data of brain iron levels obtained from MRI with neuroinflammation metabolites in HD patients. The results will provide an important basis for evaluating the role of brain iron levels and neuroinflammation metabolites as imaging biomarkers for disease stage in HD, and their relationship with the disease's pathomechanisms and clinical outcomes.
NEUROIMAGE-CLINICAL
(2023)