Article
Neurosciences
Deborah Ann Hall, Robert Henryk Pierzycki, Holly Thomas, David Greenberg, Magdalena Sereda, Derek James Hoare
Summary: The study found that Acoustic Coordinated Reset (CR (R)) Neuromodulation did not significantly reduce tinnitus symptoms or other measures compared to placebo, and there were no significant changes over time with the proprietary sound sequence. Four adverse events occurred during the trial, and the open-label extension showed no statistically significant within-group changes after 12, 24, or 36 weeks of treatment with the device.
Article
Biochemistry & Molecular Biology
Maike Werning, Verena Dobretzberger, Martin Brenner, Ernst W. Mullner, Georg Mlynek, Kristina Djinovic-Carugo, David M. Baron, Lena Fragner, Almut T. Bischoff, Boriana Buchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer
Summary: Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene. Metabolic changes in erythrocytes of PKAN patients are associated with reduced cytoplasmic acetyl-CoA levels in neurons and aberrant brain iron regulation.
Article
Gastroenterology & Hepatology
Severine Vermeire, Bruce E. Sands, Herbert Tilg, Zsolt Tulassay, Radoslaw Kempinski, Silvio Danese, Ivan Bunganic, Josianne Nitcheu, Julien Santo, Didier Scherrer, Sophie Biguenet, Hartmut J. Ehrlich, Jean-Marc Steens, Paul Gineste, William J. Sandborn
Summary: ABX464, a small molecule that upregulates miR-124 in immune cells, has shown significant improvement in patients with moderate-to-severe, active ulcerative colitis compared to placebo.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2022)
Article
Rheumatology
Satoshi Ebata, Ayumi Yoshizaki, Koji Oba, Kosuke Kashiwabara, Keiko Ueda, Yukari Uemura, Takeyuki Watadani, Takemichi Fukasawa, Shunsuke Miura, Asako Yoshizaki-Ogawa, Naoko Okiyama, Masanari Kodera, Minoru Hasegawa, Shinichi Sato
Summary: Rituximab is a safe and effective treatment option for improving skin thickening in patients with systemic sclerosis, with sustained benefits for at least 48 weeks.
LANCET RHEUMATOLOGY
(2022)
Article
Medicine, General & Internal
Steve Vucic, Parvathi Menon, William Huynh, Colin Mahoney, Karen S. Ho, Alan Hartford, Austin Rynders, Jacob Evan, Jeremy Evan, Shelia Ligozio, Robert Glanzman, Michael T. Hotchkin, Matthew C. Kiernan
Summary: CNM-Au8 is a catalytically-active gold nanocrystal neuroprotective agent that enhances intracellular energy metabolism and reduces oxidative stress. The phase 2 trial and open label extension evaluated its efficacy and safety for the treatment of ALS.
Article
Genetics & Heredity
Christos M. Polymeropoulos, Justin Brooks, Emily L. Czeisler, Michaela A. Fisher, Mary M. Gibson, Kailey Kite, Sandra P. Smieszek, Changfu Xiao, Sarah H. Elsea, Gunther Birznieks, Mihael H. Polymeropoulos
Summary: The study confirmed that tasimelteon significantly improved sleep quality and total sleep time in patients with Smith-Magenis syndrome.
GENETICS IN MEDICINE
(2021)
Article
Medicine, General & Internal
Ajit Tharakan, Himanshu Shukla, Irin Rosanna Benny, Matthan Tharakan, Lekha George, Santhosh Koshy
Summary: The study demonstrated that Withania somnifera extract has a significant immunomodulatory effect on healthy adults, increasing levels of immunoglobulins, cytokines, and various immune cells. During the extension period, subjects who continued using the extract showed further improvement in immune markers, suggesting its potential in boosting the immune system in individuals at risk of infection.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Critical Care Medicine
Jurjan Aman, Erik Duijvelaar, Liza Botros, Azar Kianzad, Job R. Schippers, Patrick J. Smeele, Sara Azhang, Imke H. Bartelink, Ahmed A. Bayoumy, Pierre M. Bet, Wim Boersma, Peter Bonta, Karin A. T. Boomars, Lieuwe D. J. Bos, Job J. M. H. van Bragt, Gert-Jan Braunstahl, Lucas R. Celant, Katrien A. B. Eger, J. J. Miranda Geelhoed, Yurika L. E. van Glabbeek, Hans P. Grotjohan, Laura A. Hagens, Chris M. Happe, Boaz D. Hazes, Leo M. A. Heunks, Michel van den Heuvel, Wouter Hoefsloot, Rianne J. A. Hoek, Romke Hoekstra, Herman M. A. Hofstee, Nicole P. Juffermans, E. Marleen Kemper, Renate Kos, Peter W. A. Kunst, Ariana Lammers, Ivo van der Lee, E. Laurien van der Lee, Anke-Hilse Maitland-van der Zee, Pearl F. M. Mau Asam, Adinda Mieras, Mirte Muller, Elisabeth C. W. Neefjes, Esther J. Nossent, Laurien M. A. Oswald, Maria J. Overbeek, Carolina C. Pamplona, Nienke Paternotte, Niels Pronk, Michiel A. de Raaf, Bas F. M. van Raaij, Merlijn Reijrink, Marcus J. Schultz, Ary Serpa Neto, Elise M. A. Slob, Frank W. J. M. Smeenk, Marry R. Smit, A. Josien Smits, Janneke E. Stalenhoef, Pieter R. Tuinman, Arthur L. E. M. Vanhove, Jeroen N. Wessels, Jessie C. C. van Wezenbeek, Anton Vonk Noordegraaf, Frances S. de Man, Harm J. Bogaard
Summary: The study showed that imatinib did not significantly reduce the time to discontinuation of oxygen in COVID-19 patients, but may improve survival rates and reduce the duration of invasive mechanical ventilation. Safety evaluation revealed no significant adverse events associated with imatinib.
LANCET RESPIRATORY MEDICINE
(2021)
Article
Multidisciplinary Sciences
Ali S. Shalash, Thomas W. Roesler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Muller, Franziska Hopfner, Gregor Kuhlenbaeumer, Gunter U. Hoeglinger, Mohamed Salama
Summary: PKAN is a rare hereditary neurodegenerative disease characterized by iron accumulation in the brain. This report describes the first genetically confirmed cases of PKAN in the Egyptian population, revealing symptoms and exome sequencing results of 4 affected siblings in a family. Studying genetics of neurodegenerative diseases in different ethnicities is crucial for understanding clinical phenotypes and disease pathomechanisms.
Article
Genetics & Heredity
Monica Alvarez-Cordoba, Marta Talaveron-Rey, Irene Villalon-Garcia, Suleva Povea-Cabello, Juan M. Suarez-Rivero, Alejandra Suarez-Carrillo, Manuel Munuera-Cabeza, Joaquin J. Salas, Jose A. Sanchez-Alcazar
Summary: Mitochondrial phosphopantetheinyl-proteins expression levels are severely reduced in PKAN cells, and treatment with pantothenate can correct the expression levels of these proteins and restore the affected pathways.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Clinical Neurology
Thomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, Cecilia Bonnet, Laura Cif, Cynthia Comella, Marta Correa-Vela, Maria L. Escolar, Jamie L. Fraser, Victoria Gonzalez, Neal Hermanowicz, Robert Jech, Hyder A. Jinnah, Tomasz Kmiec, Anthony Lang, Maria J. Marti, Saadet Mercimek-Andrews, Migvis Monduy, Graeme A. M. Nimmo, Belen Perez-Duenas, Helle Cecilie Viekilde Pfeiffer, Lluis Planellas, Emmanuel Roze, Nivedita Thakur, Laura Tochen, Nora Vanegas-Arroyave, Giovanna Zorzi, Colleen Burns, Feriandas Greblikas
Summary: The study investigated the effect of fosmetpantotenate replacement therapy on PKAN symptoms and disease progression, showing that while treatment with fosmetpantotenate was safe, it did not improve function in patients with PKAN.
MOVEMENT DISORDERS
(2021)
Article
Medicine, General & Internal
Brett King, Xingqi Zhang, Walter Gubelin Harcha, Jacek C. Szepietowski, Jerry Shapiro, Charles Lynde, Natasha A. Mesinkovska, Samuel H. Zwillich, Lynne Napatalung, Dalia Wajsbrot, Rana Fayyad, Amy Freyman, Debanjali Mitra, Vivek Purohit, Rodney Sinclair, Robert Wolk
Summary: This study investigated the efficacy and safety of Ritlecitinib, an oral medication, in patients with alopecia areata. The findings showed that Ritlecitinib had good efficacy and tolerability in patients aged 12 years and older with alopecia areata, making it a suitable treatment option for those who require systemic therapy.
Article
Genetics & Heredity
Monica Alvarez-Cordoba, Diana Reche-Lopez, Paula Cilleros-Holgado, Marta Talaveron-Rey, Irene Villalon-Garcia, Suleva Povea-Cabello, Juan M. Suarez-Rivero, Alejandra Suarez-Carrillo, Manuel Munuera-Cabeza, Rocio Pinero-Perez, Jose A. Sanchez-Alcazar
Summary: The study examined the therapeutic effectiveness of commercial supplements in mutant PANK2 cells, finding that these supplements were able to eliminate iron accumulation, increase expression levels of key enzymes, and improve pathological alterations.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Rheumatology
Desiree van der Heijde, Atul Deodhar, Walter P. Maksymowych, Joachim Sieper, Filip Van den Bosch, Tae-Hwan Kim, Mitsumasa Kishimoto, Andrew J. Ostor, Bernard Combe, Yunxia Sui, Yuanyuan Duan, Peter K. Wung, In-Ho Song
Summary: Upadacitinib 15 mg once daily demonstrated sustained and consistent efficacy in the long-term treatment of active ankylosing spondylitis. It effectively inhibited radiographic progression and no new safety concerns were identified in the clinical trial.
Article
Clinical Neurology
Lluis Planellas, Gerard Maya, Celia Painous, Pilar Santacruz, Joan Santamaria, M. J. Marti
Summary: The study describes the clinical and polysomnographic characteristics of sleep in six patients with PKAN, showing that sleep disorders are common in PKAN patients and should be considered in their management.
Article
Clinical Neurology
Fanny Quandt, Fabian Flottmann, Vince Madai, Anna Alegiani, Clemens Kuepper, Lars Kellert, Adam Hilbert, Dietmar Frey, Thomas Liebig, Jens Fiehler, Mayank Goyal, Jeffrey L. Saver, Christian Gerloff, Gotz Thomalla, Steffen Tiedt
Summary: This study aimed to evaluate the importance of EVT treatment and reperfusion level on functional outcome prediction in patients with LVO stroke. The results showed that the importance of reperfusion level was equivalent to EVT treatment allocation for outcome prediction, and was particularly important in patient groups with low NIHSS scores, low ASPECTS scores, and M2 occlusions.
TRANSLATIONAL STROKE RESEARCH
(2023)
Article
Clinical Neurology
Xavier Boumaza, Baptiste Bonneau, Damien Roos-Weil, Carmela Pinnetti, Sebastian Rauer, Louisa Nitsch, Arnaud Del Bello, Ilijas Jelcic, Kurt-Wolfram Suehs, Jacques Gasnault, Yasemin Goreci, Oliver Grauer, Sharmilee Gnanapavan, Rebecca Wicklein, Nicolas Lambert, Thomas Perpoint, Martijn Beudel, David Clifford, Agnes Sommet, Irene Cortese, Guillaume Martin-Blondel
Summary: This study aimed to evaluate the real-world effectiveness of immune checkpoint inhibitors in the treatment of patients with progressive multifocal leukoencephalopathy (PML). Retrospective data from 79 PML patients who received immune checkpoint inhibitors were analyzed, and the results showed that mortality remained high and the development of inflammatory features or PML-IRIS was commonly observed. The study highlights the importance of personalized use of immune checkpoint inhibitors for PML patients.
ANNALS OF NEUROLOGY
(2023)
Editorial Material
Clinical Neurology
Katherine R. Schon, Patrick F. Chinnery
PRACTICAL NEUROLOGY
(2023)
Article
Clinical Neurology
Katharina Feil, Maria Teresa Berndt, Silke Wunderlich, Christian Maegerlein, Kathleen Bernkopf, Hanna Zimmermann, Moriz Herzberg, Steffen Tiedt, Clemens Kuepper, Johannes Wischmann, Sonja Schoenecker, Konstantin Dimitriadis, Thomas Liebig, Marianne Dieterich, Claus Zimmer, Lars Kellert, Tobias Boeckh-Behrens
Summary: This study analyzed the treatment strategies and prognosis of BAO patients, and found that acute reperfusion strategies can achieve successful reperfusion, neurological improvement, and good functional recovery. The results showed that intravenous thrombolysis treatment and successful reperfusion were the main predictors of good prognosis.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Ursula Moore, Esther Fernandez-Simon, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, Volker Straub
Summary: This study assessed the roles of serum myostatin and follistatin concentrations in dysferlinopathy as monitoring or prognostic biomarkers. The results showed that myostatin correlated with muscle function and MRI measurements, while its changes over three years did not correlate with functional or MRI changes. Linear modeling demonstrated that function, serum creatine kinase, and C-reactive protein were independently related to myostatin concentration. Baseline myostatin concentration predicted loss of ambulation, but not the rate of change in functional or MRI measures. Overall, myostatin does not appear to be a promising treatment target in dysferlinopathy.
NEUROMUSCULAR DISORDERS
(2023)
Article
Genetics & Heredity
Laura S. Kremer, Lyuba V. Bozhilova, Diana Rubalcava-Gracia, Roberta Filograna, Mamta Upadhyay, Camilla Koolmeister, Patrick F. Chinnery, Nils-Goran Larsson
Summary: In this study, the role of autophagy in germline purifying selection of mtDNA was investigated by mating different autophagy-deficient mouse models with mice carrying a pathogenic tRNA(Ala) gene mutation. The results showed that Bcl2l13 had a significant effect on the selection process, while Ulk1 and Ulk2 had weaker effects, and Parkin had no statistically significant impact. This study provides experimental evidence for the distinct roles of autophagy in germline purifying selection of mtDNA and establishes a framework for future studies on this process.
Article
Genetics & Heredity
Alexander G. Murley, Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside, Patrick F. Chinnery
Summary: This study investigated the role of pathologic somatic variants in the PRNP gene in sporadic Creutzfeldt-Jakob disease (sCJD). High-depth amplicon-based sequencing was performed on postmortem brain tissue from sCJD, Alzheimer's disease, and control subjects. The study found somatic PRNP variants in sCJD cases, but their pathogenicity remains uncertain.
NEUROLOGY-GENETICS
(2023)
Article
Clinical Neurology
Alessia Nasca, Niccolo E. Mencacci, Federica Invernizzi, Michael Zech, Ignacio J. Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe Bustos, Luigi M. Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J. Lubbe, Barbara Garavaglia, Daniele Ghezzi
Summary: Nasca et al. have discovered a new candidate gene for dystonia, ATP5F1B, which encodes a subunit of the mitochondrial ATP synthase. This gene is associated with early-onset isolated dystonia in two families with autosomal dominant inheritance and incomplete penetrance. Functional studies showed a dominant-negative effect of the identified ATP5F1B variants, leading to reduced activity of complex V and impaired mitochondrial function.
Article
Clinical Neurology
Laura Canafoglia, Federica Zibordi, Francesco Deleo, Gionata Strigaro, Claudia Varrasi, Claudia Ciaccio, Nardo Nardocci, Ferruccio Panzica, Silvana Franceschetti, Francesca L. Sciacca
Summary: Deletions in the 6q22.1 region, including the loss of the NUS1 gene, lead to developmental encephalopathy (DE), characterized by movement disorders and epilepsy. Three patients with variable length 6q22.1 deletions were reported, all showing developmental delay and rhythmic cortical myoclonus. The deletions cause haploinsufficiency, resulting in DE and cortical myoclonus, and may also lead to progressive myoclonic epilepsy (PME).
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2023)
Article
Clinical Neurology
Laura Llanso, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Volker Straub, Jordi Diaz-Manera
Summary: In this study, the muscle imaging and clinical features of a subgroup of Dysferlinopathy patients were analyzed. It was found that approximately 63% of the patients did not meet the established imaging criteria, and 13% of them were considered as outliers with distinct clinical characteristics.
NEUROMUSCULAR DISORDERS
(2023)
Review
Clinical Neurology
Maria Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi
Summary: To evaluate the clinical spectrum, course, and response to treatments of GNAO1 pathogenic or likely pathogenic variants, researchers analyzed the clinical phenotype, genetic data, and treatment history of 157 cases. The study found that hyperkinetic movement disorder characterized most of the patients, with severe hypotonia and disturbances of postural control in the early stages. Deep brain stimulation showed a good response in almost all patients, and milder phenotypes with late-onset dystonia and other neurological signs were also observed.
PARKINSONISM & RELATED DISORDERS
(2023)
Letter
Clinical Neurology
Sara Satolli, Federica Invernizzi, Federica Rachele Danti, Chiara Reale, Celeste Panteghini, Nardo Nardocci, Barbara Garavaglia, Giovanna Zorzi
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Review
Clinical Neurology
Laia Nou-Fontanet, Carmen Martin-Gomez, Rebeca Isabel-Gomez, Anne-Catherine Bachoud-Levi, Giovanna Zorzi, Alessandro Capuano, Juan Antonio Blasco-Amaro, Juan Dario Ortigoza-Escobar
Summary: This study aimed to provide clinical recommendations for the management of chorea in NKX2-1-RD. The available evidence suggests that methylphenidate may be effective in improving chorea symptoms, but the quality of evidence is low, and more rigorous studies are needed to provide sufficient clinical recommendations.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Editorial Material
Clinical Neurology
Marta Mercati, Federica Graziola, Laura Canafoglia, Davide Caputo, Federica Rachele Danti, Chiara Reale, Giovanna Zorzi
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Genetics & Heredity
Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Angeles Garcia Cazorla, Se Song Jang, Natalia Julia-Palacios, Boris Keren, Robert Kopajtich, Sally Ann Lynch, Cyril Mignot, Catherine Moorwood, Christiane Neuhofer, Vincenzo Nigro, Anna Oostra, Holger Prokisch, Virginie Saillour, Nika Schuermans, Annalaura Torella, Patrick Verloo, Elise Yazbeck, Marcella Zollino, Robert Jech, Juliane Winkelmann, Jan Necpal, Tito Cali, Marisa Brini, Michael Zech
Summary: This study found an association between ATP2B2 variants and human neurological disorders, including neurological abnormalities such as ataxia, intellectual disability, autism, and seizures.
GENETICS IN MEDICINE
(2023)