Review
Neurosciences
Christine J. Arasaratnam, Malvindar K. Singh-Bains, Henry J. Waldvogel, Richard L. M. Faull
Summary: X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. Clinical symptoms include dystonia and parkinsonian traits. The main focus of XDP research is on the basal ganglia, but further investigation is needed to understand its detailed pathology and disease indicators.
NEUROBIOLOGY OF DISEASE
(2021)
Review
Neurosciences
Ann M. Graybiel, Ayano Matsushima
Summary: Striosomes are specialized compartments in the striatum that interact with a larger matrix called matrisomes. They have important roles in regulating dopamine-containing neurons, receiving corticostriatal afferents, and being influenced by neuromodulatory activities. Striosomes also play a key role in reinforcement learning, stereotypical behaviors, and valence conflicts and discriminations. We propose that striosomes serve as distributed scaffolds for striatal computations and affect subjective states, with potential implications for neuropsychiatric conditions.
ANNUAL REVIEW OF NEUROSCIENCE
(2023)
Article
Clinical Neurology
Maria-Daniela Cirnaru, Jordi Creus-Muncunill, Shareen Nelson, Travis Lewis, Jaime Watson, Lisa M. Ellerby, Pedro Gonzalez-Alegre, Michelle E. Ehrlich
Summary: This study investigates the behavioral and transcriptomic effects of decreased cTAF1 and/or nTAF1 in vivo. Knockdown of Taf1 in newborn animals results in motor deficits and transcriptomic alterations in multiple neuronal pathways, including the cholinergic synapse. The study provides new insights into the requirement for TAF1 in maintaining striatal cholinergic neurons postnatally and its implications in inherited forms of dystonia.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Hemani Ticku, Neel Fotedar, Jorge Juncos, Stewart A. Factor, Aasef G. Shaikh
Summary: Ocular oscillations play a critical role in diagnosing neurodegenerative disorders. In patients with progressive supranuclear palsy, vertical jerky eye oscillations were observed, which were eliminated by head stabilization. These oscillations were interpreted as pseudonystagmus caused by the vestibulo-ocular reflex in response to involuntary subtle jerky head oscillations.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Review
Clinical Neurology
Hok Leong Chin, Chia-Yi Lin, Oscar Hou-In Chou
Summary: X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that primarily affects males of Filipino descent. The genetic alterations in the TAF1/DYT3 multiple transcription system are associated with the underlying cause of XDP. Diagnosis is based on clinical history and physical examination, and treatment aims to relieve symptoms and prevent complications.
ACTA NEUROLOGICA BELGICA
(2023)
Article
Clinical Neurology
Ana Luiza Zaninotto, Jan K. de Guzman, Kaila L. Stipancic, Bridget J. Perry, Melanie L. Supnet, Criscely Go, Nutan Sharma, Jordan R. Green
Summary: This study identified impairments in bulbar functions in individuals with X-linked Dystonia-Parkinsonism (XDP) through various clinical and instrumental oromotor tasks and measures. The findings showed significant differences between XDP patients and healthy controls, especially in the early stages of the disease. Measures of oromotor performance proved to be sensitive and specific in differentiating the initial years of XDP onset from healthy individuals.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Neurosciences
Alexandra B. Nelson, Allison E. Girasole, Hsien-Yang Lee, Louis J. Ptacek, Anatol C. Kreitzer
Summary: Abnormal involuntary movements, or dyskinesias, are observed in various neurologic disorders, and may be caused by alterations in neural activity or connectivity. This study shows that dysfunction in the indirect pathway of the striatum contributes to the development of dyskinesia in a mouse model, suggesting that hypoactivity in the indirect pathway may be a key mechanism for involuntary movements in other disorders.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Clinical Neurology
Renana Mertin, Cid Diesta, Norbert Brueggemann, Raymond L. L. Rosales, Henrike Hanssen, Ana Westenberger, Julia Steinhardt, Marcus Heldmann, Hans T. S. Manalo, Jean Q. Q. Oropilla, Christine Klein, Christoph Helmchen, Andreas Sprenger
Summary: This study investigated oculomotor behavior in non-manifesting mutation carriers (NMC) of X-linked dystonia-parkinsonism (XDP). The findings showed that NMC already displayed some oculomotor deficits similar to XDP patients, indicating striatal and prefrontal impairment. It is suggested that neurodegeneration may commence in the striatum and prefrontal cortex of XDP patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Sinem Balta Beylergil, Mikkel Petersen, Palak Gupta, Mohamed Elkasaby, Camilla Kilbane, Aasef G. Shaikh
Summary: The study found that Parkinson's disease affects motion perception in both the visual and vestibular domains, with a more severe impact on vestibular perception compared to visual perception, depending on the severity of the disease.
MOVEMENT DISORDERS
(2021)
Review
Clinical Neurology
Pattamon Panyakaew, Hyder A. Jinnah, Aasef G. Shaikh
Summary: Dystonia and tremor often coexist, either sharing biological mechanisms or as comorbid conditions. This paper compares and identifies the differences and limitations between two definitions of dystonic tremor, and discusses methods to separate tremor subtypes in dystonia based on objective measures and single neuron physiology analyses.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Roland Dominic G. Jamora, Cezar Thomas R. Suratos, Jesi Ellen C. Bautista, Gail Melissa I. Ramiro, Ana Westenberger, Christine Klein, Lourdes K. Ledesma
Summary: XDP patients commonly exhibit impairments in attention and executive function, with most patients showing deficits in one or more neurocognitive domains. These impairments are primarily attributed to striatal pathology affecting the frontostriatal circuitry.
JOURNAL OF NEURAL TRANSMISSION
(2021)
Article
Genetics & Heredity
Theresa Lueth, Joshua Lab, Susen Schaake, Inken Wohlers, Jelena Pozojevic, Roland Dominic G. Jamora, Raymond L. Rosales, Norbert Brueggemann, Gerard Saranza, Cid Czarina E. Diesta, Kathleen Schlueter, Ronnie Tse, Charles Jourdan Reyes, Max Brand, Hauke Busch, Christine Klein, Ana Westenberger, Joanne Trinh
Summary: This study used Nanopore sequencing to investigate SVA genetic variability and methylation in XDP patients. The results showed that Nanopore sequencing can reliably detect SVA repeat numbers and methylation frequency, and there were only subtle differences in predicted enhancer sites between XDP patients and controls at the SVA locus.
Article
Neurosciences
Vinith Johnson, Robert Wilt, Roee Gilron, Juan Anso, Randy Perrone, Martijn Beudel, Dan Pina-Fuentes, Jeremy Saal, Jill L. Ostrem, Ian Bledsoe, Philip Starr, Simon Little
Summary: The study utilized a novel, sensing-enabled deep brain stimulator device implanted in a patient with cervical dystonia to record neural data and conduct a proof-of-principle trial. It found that low-frequency oscillations are related to dystonia and demonstrated the potential for a novel adaptive stimulation strategy.
EXPERIMENTAL NEUROLOGY
(2021)
Review
Neurosciences
Stefanie Perl, Anika Luettig, Rudiger Koehling, Angelika Richter
Summary: This review provides an overview of DBS research in animal models of dystonia, discussing the research aims, opportunities and limitations of different animal models, and technical challenges.
NEUROBIOLOGY OF DISEASE
(2022)
Review
Clinical Neurology
Anne Weissbach, Gerard Saranza, Aloysius Domingo
Summary: Genetic combined dystonias are neurologic disorders characterized by the overlap of dystonia and other movement disorders, involving multiple genes and showing wide clinical features but rare occurrence. Disease-modifying therapies are currently unavailable, with focus on symptomatic treatments.
JOURNAL OF NEURAL TRANSMISSION
(2021)
Article
Clinical Neurology
Joanne Trinh, Theresa Luth, Susen Schaake, Bjorn-Hergen Laabs, Kathleen Schlueter, Joshua Lass, Jelena Pozojevic, Ronnie Tse, Inke Koenig, Roland Dominic Jamora, Raymond L. Rosales, Norbert Brueggemann, Gerard Saranza, Cid Czarina E. Diesta, Frank J. Kaiser, Christel Depienne, Christopher E. Pearson, Ana Westenberger, Christine Klein
Summary: By sequencing the genomes of XDP patients, researchers have discovered various mutations within the repetitive sequence SINE-VNTR-Alu(AGAGGG)(n), which may act as modifiers of disease expression in XDP.
Article
Psychology, Biological
Shijing Yu, Moritz Muckschel, Sven Hoffmann, Annet Bluschke, Charlotte Pscherer, Christian Beste
Summary: This study provides a detailed analysis of the neurophysiological processes leading to response errors and correct actions. The researchers found that specific aspects of EEG activity related to stimulus-response translation and motor response representations are essential in understanding errors. The stability of these neural representations predicts the magnitude of posterror slowing.
Article
Neurosciences
Negin Gholamipourbarogh, Filippo Ghin, Moritz Mueckschel, Christian Frings, Ann-Kathrin Stock, Christian Beste
Summary: This study aims to investigate the neural mechanisms of response inhibition, particularly how the representational dynamics of inhibitory control processes are modulated in automatic and controlled modes. By combining EEG signal analysis methods with source localization, we gained insights into the fine-grained neural dynamics of response inhibition. The results showed that response inhibition was better in a controlled mode, and the neural dynamics involved coding of both stimulus-related information and rules of stimulus-motor program association. Additionally, we identified two independent neural activity patterns with differences in the temporal stability of the representational content. Source localization analysis revealed the importance of the precuneus and inferior parietal cortex regions in representing stimulus-response selection codes.
HUMAN BRAIN MAPPING
(2023)
Article
Genetics & Heredity
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
Summary: This study investigated patients with dystonic or involuntary movement disorders in two families. Genetic analyses revealed mutations in the MRM2 gene that were associated with the phenotypes.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Psychology, Biological
Celine C. Haciahmet, Christian Frings, Christian Beste, Alexander Muenchau, Bernhard Pastoetter
Article
Clinical Neurology
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Bjoern-Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Christine Klein, Thomas F. Muente, Ana Westenberger, Jean Q. Oropilla, Norbert Brueggemann
Summary: In this study, it was found that X-linked dystonia-parkinsonism has basal ganglia atrophy and iron accumulation before the clinical onset. These findings highlight the potential of early diagnosis and the importance of understanding the prodromal phase of the disease.
ANNALS OF NEUROLOGY
(2023)
Article
Psychology, Developmental
Josefine Rothe, Fabian A. Kattlun, Jeanne Kaufmann, Anne Uhlmann, Sina Wanderer, Annet Bluschke, Christian Beste, Veit Roessner
Summary: In addition to the core symptoms of ADHD, motor problems, particularly graphomotor movements, are often experienced by affected children. However, in clinical settings, diagnosing and treating these difficulties in a standardized and objective manner are often overlooked. This study examined the effects of methylphenidate and physiotherapeutic treatment on objectively assessed graphomotor movements compared to parental psychoeducation in newly diagnosed ADHD children. The results suggested that overall graphomotor movements did not significantly improve with methylphenidate or physiotherapeutic treatment, indicating a need for better tailored treatments for specific deficits in graphomotor movements.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Neurosciences
Paul Wendiggensen, Christian Beste
Summary: Cognitive flexibility is crucial in everyday life, but neurophysiological studies have often neglected the impact of brain states preceding cognitive flexibility. Using EEG-beamforming, this study found that response selection processes during cognitive flexibility are strongly connected to idling and preparatory brain activity states in both theta and alpha bands. The superior parietal cortex plays an important role in assembling inhibitory processes during idling brain states, which are then relayed to response selection processes associated with theta-band activity. These results highlight the importance of brain activity states prior to response selection for cognitive flexibility.
JOURNAL OF COGNITIVE NEUROSCIENCE
(2023)
Article
Clinical Neurology
Alfand Marl F. Dy Closas, Katja Lohmann, Ai Huey Tan, Norlinah Mohamed Ibrahim, Jia Lun Lim, Yi Wen Tay, Kalai Arasu Muthusamy, Azlina Binti Ahmad-Annuar, Christine Klein, Shen -Yang Lim
Summary: KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome that commonly progresses from the lower limbs to the upper limbs and eventually affects the craniocervical region. It is now recognized as one of the more common monogenic causes of dystonia syndromes. This report presents an atypical case of DYT-KMT2B with oromandibular dystonia as the initial symptom, which remained localized to this region for three decades. This is the first reported case of DYT-KMT2B from Southeast Asia and provides further evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
JOURNAL OF MOVEMENT DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Melissa Vos, Christine Klein, Andrew A. Hicks
Summary: Sphingolipids, a subset of bioactive lipids, play a crucial role in proper neuronal function and are involved in almost all biological processes. Recent studies have found alterations in sphingolipids in patients with Parkinson's disease (PD), suggesting an important interaction between sphingolipids and PD-related cellular processes. This article discusses the role of sphingolipids in mitochondrial dysfunction, autophagy defects, and abnormal endosomal activity in PD.
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Article
Psychology, Biological
Negin Gholamipourbarogh, Amirali Vahid, Moritz Mueckschel, Christian Beste
Summary: Inhibitory control processes are crucial for executive functions and goal-directed behavior. This study combines independent component analysis (ICA) with explainable artificial intelligence approaches (EEG-based deep learning) to investigate the spatial activity profiles in EEG data that can predict response inhibition. The findings reveal four dissociable spatial activity profiles, with neural activity during the 300-550 ms time window after stimulus presentation being the most informative. Source localization analyses identify specific brain regions associated with these activity profiles. These results contribute to the understanding of the neural processes underlying inhibitory control.
Article
Multidisciplinary Sciences
Roula Jamous, Adam Takacs, Christian Frings, Alexander Muenchau, Moritz Mueckschel, Christian Beste
Summary: This study examines how motor feature bindings are influenced by reward magnitude and unsigned surprise signals. The results show that the consistency of action file binding strength is modulated by unsigned surprise, but not by reward magnitude. The findings provide links between different theoretical frameworks that were not connected previously.
SCIENTIFIC REPORTS
(2023)
Article
Behavioral Sciences
Astrid Prochnow, Xianzhen Zhou, Foroogh Ghorbani, Paul Wendiggensen, Veit Roessner, Bernhard Hommel, Christian Beste
Summary: Individuals organize events in their environment by partitioning them into discrete units. This study reveals that the neural activity in the brain plays a critical role in this process, reflecting the key elements of event segmentation.
Article
Psychology, Mathematical
Adriana Boettcher, Nico Adelhoefer, Saskia Wilken, Markus Raab, Sven Hoffmann, Christian Beste
Summary: In daily life, sensorimotor integration processes play a fundamental role in cognitive operations. The pursuit-tracking paradigm is a useful tool to examine sensorimotor integration in a more complex environment than traditional tasks. However, the analysis of pursuit-tracking performance is complicated and the interpretation of performance parameters is often ambiguous. To address this, we introduce an open-source algorithm (TRACK) that calculates a new tracking error metric based on the identification of the intended target position. Applying this algorithm to pursuit-tracking data, we demonstrate its higher precision and provide new insights for investigating pursuit-tracking behavior.
BEHAVIOR RESEARCH METHODS
(2023)
Article
Biochemistry & Molecular Biology
Lorenza Colzato, Julia Elmers, Xiaolei Xu, Qiang Zhou, Bernhard Hommel, Christian Beste
Summary: Opioid use disorder (OUD) is a major issue in China, often accompanied by depression and cognitive control deficits. Auricular transcutaneous vagus nerve stimulation (atVNS) shows potential as an addition to methadone maintenance treatment (MMT) for opioid withdrawal, targeting the locus coeruleus and noradrenaline synthesis. Its integration into tele-medical health approaches can enhance clinical and cognitive outcomes, especially in everyday life situations.
