Article
Neurosciences
Patrick Davis, Kyle Takach, Kiran Maski, April Levin
Summary: Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of purposeful hand use and spoken language following an initial period of normal development. This study found that RTT patients exhibit ectopic coupling during slow-wave sleep and different subtypes of RTT have distinct phase-amplitude coupling (PAC) topography. These findings suggest that ectopic coupling during slow-wave sleep may underlie the circuit-level pathophysiology of RTT.
Article
Clinical Neurology
Alessandra Sperandeo, Claudia Tamburini, Zoe Noakes, Daniel Cabezas de la Fuente, Francesca Keefe, Olena Petter, William Plumbly, Nicholas E. Clifton, Meng Li, Kathryn J. Peall
Summary: The study reveals that SGCE mutations lead to hyperexcitability in cortical stem cells, both at the network and single cell level. This is accompanied by longer and more complex neurite morphology, as well as disruption of synaptic adhesion molecules. The findings shed light on the pathogenesis of myoclonus dystonia and provide potential therapeutic targets.
Article
Neurosciences
Valentina Gigliucci, Jasper Teutsch, Marc Woodbury-Smith, Mirko Luoni, Marta Busnelli, Bice Chini, Abhishek Banerjee
Summary: The study found that Rett syndrome (RTT) is associated with deficits in KCC2 function and E/I balance. Treatment with recombinant human insulin-like growth factor-1 (rhIGF-1) and oxytocin (OXT) may restore KCC2 expression and normalize E/I balance. These findings provide new therapeutic strategies for RTT.
Article
Biochemistry & Molecular Biology
Anna Kutschenko, Selma Staege, Karen Grutz, Hannes Glab, Norman Kalmbach, Thomas Gschwendtberger, Lisa M. Henkel, Johanne Heine, Anne Grunewald, Andreas Hermann, Philip Seibler, Florian Wegner
Summary: Myoclonus-dystonia (DYT-SGCE), a rare neurological disorder caused by mutations in the SGCE gene, is characterized by abnormal Ca2+ signaling, synaptic density, and electrical properties in patient-derived neurons. This study provides insights into the pathophysiology of the disease and potential novel therapeutic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Alberto Lazari, Piergiorgio Salvan, Michiel Cottaar, Daniel Papp, Matthew F. S. Rushworth, Heidi Johansen-Berg
Summary: Evidence suggests that white matter plasticity in humans follows Hebb's rule. Stimulation of cortical areas leads to increased cortical excitability and a myelin marker in the stimulated fiber bundle, indicating the presence of Hebbian plasticity in human white matter fibers.
Review
Biochemistry & Molecular Biology
Jatinder Singh, Ella Goodman-Vincent, Paramala Santosh
Summary: This systematic review and thematic analysis evaluates the application of gene therapy trials in multiple disorders and extrapolates the findings to individuals with Rett syndrome (RTT). The analysis reveals key themes including therapeutic time window, administration and dosing strategies, methods of gene therapeutics, and future areas of clinical interest. The findings suggest that gene therapies have better outcomes when the brain is not the primary target and early intervention is critical. The timing of intervention and administration route are important parameters for successful gene therapy trials in individuals with RTT.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Sharmony B. Kelly, Justin M. Dean, Valerie A. Zahra, Ingrid Dudink, Alison Thiel, Graeme R. Polglase, Suzanne L. Miller, Stuart B. Hooper, Laura Bennet, Alistair J. Gunn, Robert Galinsky
Summary: This study investigated the effects of antenatal infection/inflammation on cortical neuronal microstructure and neural function using fetal sheep. The results showed that exposure to inflammation led to impaired dendritic arborisation, loss of high-frequency EEG activity, and alterations in neurodevelopmental outcomes, while the number of neurons remained unchanged.
JOURNAL OF NEUROINFLAMMATION
(2023)
Article
Clinical Neurology
Giada Rossignoli, Karolin Kramer, Eleonora Lugara, Haya Alrashidi, Simon Pope, Carmen De la Fuente Barrigon, Katy Barwick, Giovanni Bisello, Joanne Ng, John Counsell, Gabriele Lignani, Simon J. R. Heales, Mariarita Bertoldi, Serena Barral, Manju A. Kurian
Summary: AADC deficiency is a complex inherited neurological disorder characterized by cognitive and motor delay, which can be modeled using patient-derived neuronal models. Therapeutic approaches such as gene therapy and L-DOPA treatment have shown promise in improving neuronal developmental defects and dopamine metabolism deficiency in this condition.
Article
Neurosciences
Xiao-Wei Li, Yi Ren, Dong-Qing Shi, Lei Qi, Fang Xu, Yanyang Xiao, Pak-Ming Lau, Guo-Qiang Bi
Summary: Acetylcholine (ACh) affects neural circuit dynamics by inhibiting excitatory synaptic transmission and enhancing neuronal excitability through muscarinic signaling pathways. It suppresses evoked reverberation at low to moderate doses, while high doses result in longer duration of reverberation and increased spontaneous activity. These effects are mediated by muscarinic, but not nicotinic receptors, and can be simulated through changes in excitatory postsynaptic currents (EPSCs) and the excitability of single cells.
NEUROSCIENCE BULLETIN
(2023)
Article
Cell Biology
Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hu Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Ballas
Summary: This study shows that mutations in the MECP2 gene can interfere with the developmental maturation of human astrocytes, thus affecting their ability to support neurons. These mutations, primarily causing Rett syndrome, greatly impact astrocytes' role in brain bioenergetics, mediated by dysfunctional mitochondria. While MECP2 mutations cause intrinsic aberrations in astrocyte transcriptional landscape, they surprisingly do not affect the neuron-induced astrocyte gene expression. However, the mutations prevent astrocytes from developing complex mature morphology due to cell-intrinsic and non-cell-autonomous aberrations.
Review
Medicine, General & Internal
A. Oyarzabal, U. Musokhranova, L. F. Barros, A. Garcia-Cazorla
Summary: This review discusses the physiological brain energetics at prenatal, neonatal, and childhood stages, as well as the main groups of inborn errors of energy metabolism affecting the brain. The lack of basic neuroscience research in this field hinders the opportunity for these disorders to provide paradigms of energy utilization during neurodevelopment, but understanding the mechanisms of brain energy disturbance precisely can pave the way for metabolic modulation therapies.
Article
Multidisciplinary Sciences
Simon d'Aquin, Andras Szonyi, Mathias Mahn, Sabine Krabbe, Jan Gruendemann, Andreas Luethi
Summary: This study reveals the functional and plastic properties of active dendrites in behaving animals and the differential plasticity between dendrites and somas induced by fear conditioning.
Review
Neurosciences
Snow Bach, Stephen Shovlin, Michael Moriarty, Barbara Bardoni, Daniela Tropea
Summary: RTT and FXS are two monogenetic neurodevelopmental disorders with overlapping features possibly due to interactions between MeCP2 and FMRP. Both syndromes affect brain development and result in dysregulation of common molecular signaling pathways.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Sarah Bachmann, Jenice Linde, Michael Bell, Marc Spehr, Hans Zempel, Geraldine Zimmer-Bensch
Summary: Epigenetic mechanisms, particularly DNA methylation, play a crucial role in regulating synaptic activity in both mouse and human neurons. Inhibition of the DNA methyltransferase DNMT1 in human excitatory neurons resulted in a decrease in synaptic activity, highlighting the importance of epigenetic regulation in synaptic function in the human brain.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Javier Flores Gutierrez, Giulia Natali, Jacopo Giorgi, Elvira De Leonibus, Enrico Tongiorgi
Summary: This study explored the treatment effect of MTZ on Rett Syndrome (RTT) and found that a 30-day MTZ treatment significantly improved body weight, motor behavior, and the development of perineuronal nets in young Mecp2(+/-) mice. These results suggest that MTZ may be a potential drug for the treatment of RTT.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Multidisciplinary Sciences
Judith R. Reinhard, Alexander Kriz, Milos Galic, Nico Angliker, Mathieu Rajalu, Kaspar E. Vogt, Markus A. Ruegg
NATURE COMMUNICATIONS
(2016)
Article
Neurosciences
Yukino Ogawa, Takeshi Kanda, Kaspar Vogt, Masashi Yanagisawa
JOURNAL OF COMPARATIVE NEUROLOGY
(2017)
Article
Multidisciplinary Sciences
Yoko Irukayama-Tomobe, Yasuhiro Ogawa, Hiromu Tominaga, Yukiko Ishikawa, Naoto Hosokawa, Shinobu Ambai, Yuki Kawabe, Shuntaro Uchida, Ryo Nakajima, Tsuyoshi Saitoh, Takeshi Kanda, Kaspar Vogt, Takeshi Sakurai, Hiroshi Nagase, Masashi Yanagisawa
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2017)
Article
Neurosciences
Lydia Barth, Rosmarie Suetterlin, Markus Nenniger, Kaspar E. Vogt
FRONTIERS IN CELLULAR NEUROSCIENCE
(2014)
Article
Multidisciplinary Sciences
Sumire Matsumoto, Kaoru Ohyama, Javier Diaz, Masashi Yanagisawa, Robert W. Greene, Kaspar E. Vogt
SCIENTIFIC REPORTS
(2020)
Article
Multidisciplinary Sciences
Kaoru Ohyama, Takeshi Kanda, Takehiro Miyazaki, Natsuko Tsujino, Ryo Ishii, Yukiko Ishikawa, Hiroki Muramoto, Francois Grenier, Yuichi Makino, Thomas J. McHugh, Masashi Yanagisawa, Robert W. Greene, Kaspar E. Vogt
Article
Neurosciences
Deependra Kumar, Iyo Koyanagi, Alvaro Carrier-Ruiz, Pablo Vergara, Sakthivel Srinivasan, Yuki Sugaya, Masatoshi Kasuya, Tzong-Shiue Yu, Kaspar E. Vogt, Masafumi Muratani, Takaaki Ohnishi, Sima Singh, Catia M. Teixeira, Yoan Cherasse, Toshie Naoi, Szu-Han Wang, Pimpimon Nondhalee, Boran A. H. Osman, Naoko Kaneko, Kazunobu Sawamoto, Steven G. Kernie, Takeshi Sakurai, Thomas J. McHugh, Masanobu Kano, Masashi Yanagisawa, Masanori Sakaguchi
Editorial Material
Neurosciences
Michael Lazarus, Yu Hayashi, Sakiko Honjoh, Kaspar E. Vogt, Ada Eban-Rothschild, Qinghua Liu, Takeshi Sakurai
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Multidisciplinary Sciences
Yuki Hirose, Tomohiro Kitazono, Maiko Sezaki, Manabu Abe, Kenji Sakimura, Hiromasa Funato, Hiroshi Handa, Kaspar E. Vogt, Masashi Yanagisawa
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Multidisciplinary Sciences
Insung Park, Javier Diaz, Sumire Matsumoto, Kaito Iwayama, Yoshiharu Nabekura, Hitomi Ogata, Momoko Kayaba, Atsushi Aoyagi, Katsuhiko Yajima, Makoto Satoh, Kumpei Tokuyama, Kaspar E. Vogt
Summary: Although vigorous exercise does not lead to a subjective improvement in sleep quality, sleep function is improved on the basis of its effect on objective EEG parameters.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Chia-Jung Tsai, Takeshi Nagata, Chih-Yao Liu, Takaya Suganuma, Takeshi Kanda, Takehiro Miyazaki, Kai Liu, Tsuyoshi Saitoh, Hiroshi Nagase, Michael Lazarus, Kaspar E. Vogt, Masashi Yanagisawa, Yu Hayashi
Summary: The study observed a significant increase in capillary cerebral blood flow during REM sleep, with no significant difference between wakefulness and non-REM sleep. At the molecular level, signaling through adenosine A2a receptors is crucial for this process.
Article
Neurosciences
GoEun Han, Sumire Matsumoto, Javier Diaz, Robert W. W. Greene, Kaspar E. E. Vogt
Summary: Blocking calcium entry through L-type VGCCs does not interfere with EEG delta oscillations or their homeostatic regulation, despite prior evidence from calcium channel knockout mice.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Geriatrics & Gerontology
Insung Park, Chihiro Kokudo, Jaehoon Seol, Asuka Ishihara, Simeng Zhang, Akiko Uchizawa, Haruka Osumi, Ryusuke Miyamoto, Kazumasa Horie, Chihiro Suzuki, Yoko Suzuki, Tomohiro Okura, Javier Diaz, Kaspar E. E. Vogt, Kumpei Tokuyama
Summary: This study found that older individuals have shorter total sleep time and slow-wave sleep time, decreased sleep stability, and lower delta wave amplitude. Through sleep stage transition analysis and CVE comparisons, it was discovered that older subjects exhibit lower wave stability in NREM sleep.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Biochemical Research Methods
Tohru M. Takahashi, Arisa Hirano, Takeshi Kanda, Viviane M. Saito, Hiroto Ashitomi, Kazumasa Z. Tanaka, Yasufumi Yokoshiki, Kosaku Masuda, Masashi Yanagisawa, Kaspar E. Vogt, Takashi Tokuda, Takeshi Sakurai
Summary: We have successfully induced a hibernation-like hypothermic/hypometabolic state in mice using an optogenetic method. This method is useful for studying the neural mechanisms underlying long-term dormancy states such as sleep and hibernation.
CELL REPORTS METHODS
(2022)