Article
Multidisciplinary Sciences
Rebekka Lencer, Inga Meyhoefer, Janina Triebsch, Karen Rolfes, Markus Lappe, Tamara Watson
Summary: The study found that visual disturbances in schizophrenia patients were not related to saccadic suppression, but were related to saccade amplitudes. Patients showed reduced saccade amplitudes in the saccadic suppression task, possibly due to cognitive load.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Chris Scholes, Paul V. McGraw, Neil W. Roach
Summary: Saccadic suppression is attenuated during learning on a visual detection task, eventually being effectively silenced. The changes in sensitivity during learning are accompanied by a systematic impact of saccades on performance. This silencing of suppression is not explained by changes in saccade characteristics, and it generalizes to untrained retinal locations and stimulus orientations.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Hannes Erdmann, Florian Schoeberl, Madalina Giurgiu, Rafaela Magalhaes Leal Silva, Veronika Scholz, Florentine Scharf, Martin Wendlandt, Stephanie Kleinle, Marcus Deschauer, Georg Nuebling, Wolfgang Heide, Sait Seymen Babacan, Christine Schneider, Teresa Neuhann, Katrin Hahn, Benedikt Schoser, Elke Holinski-Feder, Dieter A. Wolf, Angela Abicht
Summary: Erdmann et al. developed and validated a method called Clin-CATS for the parallel analysis of repeat loci associated with hereditary ataxias. Using this method, they identified causative repeat expansions in 28 out of 100 undiagnosed patients, including biallelic expansions in RFC1. This amplification-free method allows for more precise and simultaneous analysis of repeat loci, contributing to the diagnosis of phenotypically overlapping repeat expansion disorders.
Article
Neurosciences
Anton N. Shuvaev, Olga S. Belozor, Oleg I. Mozhei, Aleksandra G. Mileiko, Ludmila D. Mosina, Irina V. Laletina, Ilia G. Mikhailov, Yana V. Fritsler, Andrey N. Shuvaev, Anja G. Teschemacher, Sergey Kasparov
Summary: Memantine is an FDA approved drug used for treating Alzheimer's disease by reducing neurodegeneration. However, its potential side effects on anxiety and behavior should be carefully evaluated before wider use.
Article
Cell Biology
Sachira Denagamage, Mitchell P. Morton, Nyomi Hudson, John H. Reynolds, Monika P. Jadi, Anirvan S. Nandy
Summary: This research examines the effects of saccadic suppression on neural subpopulations in visual area V4. The study shows subpopulation-specific differences in peri-saccadic modulation and identifies the involvement of inhibitory interneurons in saccadic suppression. A computational model is used to demonstrate how eye movement signaling interacts with cortical circuitry to maintain visual stability.
Article
Biology
Saad Idrees, Matthias-Philipp Baumann, Maria M. Korympidou, Timm Schubert, Alexandra Kling, Katrin Franke, Ziad M. Hafed, Felix Franke, Thomas A. Muench
Summary: Visual perception remains stable across saccades because of the reduction in visual sensitivity known as saccadic suppression. This suppression is achieved through three independent mechanisms in the retina.
COMMUNICATIONS BIOLOGY
(2022)
Review
Genetics & Heredity
Ashraf Yahia, Giovanni Stevanin
Summary: Hereditary spinocerebellar degeneration (SCD) comprises a group of rare diseases with diverse clinical and genetic characteristics, making diagnosis and management challenging. Precision medicine relies on accurate diagnosis, and discovering genes causing unknown conditions can guide patient and family management and lead to the identification of more genetic diseases.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Eckart Zimmermann
Summary: Visual stability during eye movements requires discerning self-generated motion from external motion. In the laboratory, researchers often study visual stability by asking observers to discriminate the direction of target displacements during saccades. It is well-established that performance in this paradigm is usually poor. This study found that participants mislocalized the pre-saccadic target to the physical position of the post-saccadic target, but only after backward displacements.
Review
Clinical Neurology
Natalie Witek, Jacob Hawkins, Deborah Hall
Summary: This review presents updated guidelines for differential diagnosis of genetic ataxia, offering a diagnostic roadmap for physicians based on current literature.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2021)
Article
Clinical Neurology
Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Fiorella Gurrieri, Mario Cirillo, Alfonso Cerase, Gemma Natale, Federica Matrone, Vittorio Riso, Mariarosa Anna Beatrice Melone, Alessandra Tessa, Giovanna De Michele, Antonio Federico, Alessandro Filla, Maria Teresa Dotti, Filippo Maria Santorelli
Summary: Mutations in the POLR3A gene exhibit high phenotypic heterogeneity, with manifestations ranging from severe diseases to milder symptoms. Late-onset spastic ataxia without hypomyelinating leukodystrophy has been linked to the c.1909 + 22G > A mutation in POLR3A. This cohort of patients with POLR3A-related disorders showed various neurological symptoms, with one patient displaying features not previously reported in association with late-onset POLR3A-related disorders.
NEUROLOGICAL SCIENCES
(2022)
Review
Neurosciences
Jose Luiz Pedroso, Thiago Cardoso Vale, Marcondes C. Franca Junior, Marcelo A. Kauffman, Helio Teive, Orlando Graziani Povoas Barsottini, Renato Puppi Munhoz
Summary: Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. This condition can present with heterogeneous clinical features along with other neurologic and non-neurological symptoms, resulting in complex phenotypes. Establishing an organized classification method based on mode of inheritance is essential for approaching patients with these syndromes, and a diagnostic approach is proposed in this review.
Article
Neurosciences
Anna Castiglione, Adam R. Aron
Summary: The study demonstrated that rapidly preventing long-term memory retrieval results in broad skeletomotor suppression. Participants reported fewer intrusions in No-Think trials compared to Think trials, and the number of intrusion reports decreased with practice.
JOURNAL OF COGNITIVE NEUROSCIENCE
(2021)
Review
Clinical Neurology
Anthony J. Linares, Brent L. Fogel
Summary: Late-onset genetic cerebellar ataxias are clinically heterogenous and can present with variable phenotypes, including dementia. Understanding the relationship between ataxia and dementia can guide clinical genetic evaluation.
CURRENT OPINION IN NEUROLOGY
(2023)
Article
Clinical Neurology
Jean-Madeleine de Sainte Agathe, Sandra Mercier, Jean-Yves Mahe, Yann Pereon, Julien Buratti, Laurene Tissier, Bophara Kol, Samia Ait Said, Eric Leguern, Guillaume Banneau, Giovanni Stevanin
Summary: The study confirms the involvement of biallelic truncating variants in the RNF170 gene in a novel form of hereditary spastic paraplegia, by analyzing a family with 4 affected members carrying a homozygous variant.
MOVEMENT DISORDERS
(2021)
Review
Genetics & Heredity
Motohiro Yamauchi
Summary: Chromosome rearrangements are structural variations in chromosomes and are associated with a variety of human diseases. Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by chromosome rearrangements at the cellular level, particularly in T lymphocytes. The defective gene in A-T is ataxia-telangiectasia mutated (ATM), which plays a central role in cellular response to DNA damage, including suppressing chromosome rearrangements.
Article
Physics, Applied
A. Lagunas, O. Dominguez, S. Martinez-Conde, S. L. Macknik, C. Del-Rio
JOURNAL OF APPLIED PHYSICS
(2017)
Review
Biology
Susana Martinez-Conde, Stephen L. Macknik
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2017)
Editorial Material
Multidisciplinary Sciences
Susana Martinez-Conde, Stephen L. Macknik
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2017)
Article
Radiology, Nuclear Medicine & Medical Imaging
Stephen Waite, Srinivas Kolla, Jean Jeudy, Alan Legasto, Stephen L. Macknik, Susana Martinez-Conde, Elizabeth A. Krupinski, Deborah L. Reede
JOURNAL OF THE AMERICAN COLLEGE OF RADIOLOGY
(2017)
Editorial Material
Neurosciences
Susana Martinez-Conde, Stephen L. Macknik, David J. Heeger
TRENDS IN NEUROSCIENCES
(2018)
Review
Clinical Neurology
Robert G. Alexander, Stephen L. Macknik, Susana Martinez-Conde
FRONTIERS IN NEUROLOGY
(2018)
Article
Clinical Neurology
Jorge Otero-Millan, Lance M. Optican, Stephen L. Macknik, Susana Martinez-Conde
FRONTIERS IN NEUROLOGY
(2018)
Article
Multidisciplinary Sciences
Rocio Leal-Campanario, Luis Alarcon-Martinez, Hector Rieiro, Susana Martinez-Conde, Tugba Alarcon-Martinez, Xiuli Zhao, Jonathan LaMee, Pamela J. Osborn Popp, Michael E. Calhoun, Juan I. Arribas, Alexander A. Schlegel, Leandro L. Di Stasi, Jong M. Rho, Landon Inge, Jorge Otero-Millan, David M. Treiman, Stephen L. Macknik
SCIENTIFIC REPORTS
(2017)
Article
Biochemistry & Molecular Biology
Niansheng Ju, Rundong Jiang, Stephen L. Macknik, Susana Martinez-Conde, Shiming Tang
Article
Neurosciences
Susana Martinez-Conde, Robert G. Alexander, Deborah Blum, Noah Britton, Barbara K. Lipska, Gregory J. Quirk, Jamy Ian Swiss, Roel M. Willems, Stephen L. Macknik
JOURNAL OF NEUROSCIENCE
(2019)
Article
Neurosciences
Stephen L. Macknik, Robert G. Alexander, Olivya Caballero, Jordi Chanovas, Kristina J. Nielsen, Nozomi Nishimura, Chris B. Schaffer, Hamutal Slovin, Amit Babayoff, Ravid Barak, Shiming Tang, Niansheng Ju, Azadeh Yazdan-Shahmorad, Jose-Manuel Alonso, Eugene Malinskiy, Susana Martinez-Conde
JOURNAL OF NEUROSCIENCE
(2019)
Article
Multidisciplinary Sciences
Niansheng Ju, Yang Li, Fang Liu, Hongfei Jiang, Stephen L. Macknik, Susana Martinez-Conde, Shiming Tang
NATURE COMMUNICATIONS
(2020)
Review
Radiology, Nuclear Medicine & Medical Imaging
Robert Alexander, Stephen Waite, Michael A. Bruno, Elizabeth A. Krupinski, Leonard Berlin, Stephen Macknik, Susana Martinez-Conde
Summary: The effects of workload and duty hours on the accuracy of radiologists have not been quantified yet. The workload of radiologists in the United States has been increasing, and there is a concern that this could lead to reduced accuracy. Instituting workload and duty limits to optimize performance and safety is a potential solution, but any prescribed limits would need to be based on scientific principles. It is important to understand how radiologists function optimally and at the margins of adequate performance before making recommendations for restrictions.
Article
Biodiversity Conservation
Susana Martinez-Conde, Stephen L. Macknik
Article
Ophthalmology
Anthony S. Barnhart, Francisco M. Costela, Susana Martinez-Conde, Stephen D. Goldinger
JOURNAL OF EYE MOVEMENT RESEARCH
(2019)
