Article
Clinical Neurology
Melodie Proteau-Lemieux, Angelina Lacroix, Luc Galarneau, Francois Corbin, Jean-Francois Lepage, Artuela Caku
Summary: This study confirms the safety of metformin in normoglycemic patients with FXS and suggests its potential in modifying GABA-mediated inhibition, a hallmark of FXS pathophysiology.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Article
Neurosciences
Pan-Yue Deng, Oshri Avraham, Valeria Cavalli, Vitaly A. Klyachko
Summary: The study revealed pronounced hyperexcitability in peripheral sensory neurons in Fmr1 KO mice, primarily caused by dysfunction of HCN channels, with no significant changes observed in AP rising and falling time, peak potential, amplitude, or duration. Sensory dysfunction in the FXS mouse model may stem from contributions of both neuronal intrinsic and extrinsic mechanisms.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Review
Psychiatry
Khaleel A. Razak, Devin K. Binder, Iryna M. Ethell
Summary: This study explored the association between autism spectrum disorders and sensory processing disorders, as well as the neural correlates of Fragile X Syndrome. Findings indicated that individuals with Fragile X Syndrome often exhibit atypical sensory processing, including auditory hypersensitivity. By analyzing Fmr1 KO mice, the study revealed the neural mechanisms underlying auditory hypersensitivity and proposed new therapeutic approaches.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Neurosciences
Xiaotong Wu, Yali Liu, Xiaomeng Wang, Lu Zheng, Libiao Pan, Hao Wang
Summary: This study reveals developmental impairment of thalamic relay synapses in individuals with fragile X syndrome, which may contribute to somatosensory over-reactivity.
NEUROSCIENCE BULLETIN
(2023)
Article
Psychology, Developmental
Ave M. Lachiewicz, Tracy M. Stackhouse, Kristin Burgess, Debra Burgess, Howard F. Andrews, Tse-Hwei Choo, Walter E. Kaufmann, Sharon A. Kidd
Summary: This study aims to enhance our understanding of sensory symptoms and signs of hyperarousal in individuals with fragile X syndrome (FXS) and their impact, as well as gender differences. Data analysis shows that males are more affected by sensory symptoms and signs of hyperarousal. Furthermore, these symptoms and signs are associated with difficulties in behavioral regulation and limitations in everyday activities.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Review
Neurosciences
Xiaopeng Liu, Vipendra Kumar, Nien-Pei Tsai, Benjamin D. Auerbach
Summary: Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene, leading to autism and intellectual disabilities. FXS presents a complex phenotype with disruptions in physical and neurocognitive functions, possibly resulting from circuit hyperexcitability at the intersection of various molecular pathways. Understanding the impact of FMR1 mutation on neural circuits is complicated by inherent plasticity and dysregulation of activity-dependent plasticity, leading to challenges in separating direct effects of the mutation from compensatory changes in FXS pathophysiology.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Neurosciences
Oshri Avraham, Pan-Yue Deng, Dario Maschi, Vitaly A. Klyachko, Valeria Cavalli
Summary: Research on sensory deficits in FXS suggests that the disrupted association between neurons and peripheral glial cells may lead to changes in neuronal maturation and glial vesicular secretion, potentially contributing to sensory deficits.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Neurosciences
Xiaoyu Wang, Qiwei Fan, Xiaoyan Yu, Yuan Wang
Summary: In this study, the researchers investigated the distribution and expression of FMRP in the inner ear of mice, rats, gerbils, and chickens. They found that FMRP was present in hair cells, supporting cells, and auditory ganglion neurons. The distribution of FMRP in hair cells showed age-dependent translocation, while FMRP in auditory ganglion neurons exhibited high intensity during both development and maturation. These findings suggest the involvement of FMRP in inner ear development and its potential contribution to auditory dysfunction in Fragile X syndrome.
JOURNAL OF COMPARATIVE NEUROLOGY
(2023)
Review
Genetics & Heredity
Aadil Yousuf, Nadeem Ahmed, Abrar Qurashi
Summary: Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are distinct disorders caused by abnormal expansion of CGG repeats. FXTAS is a neurodegenerative disorder characterized by gene hyperexpression, while FXS is a neurodevelopmental disorder characterized by gene silencing. Non-canonical DNA and RNA structures formed from CGG repeat expansions can disrupt cellular processes and have different effects in these two disorders.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Valeria Buzzelli, Emilia Carbone, Antonia Manduca, Sara Schiavi, Alessandro Feo, Julia V. V. Perederiy, Kyle H. H. Ambert, Marvin Hausman, Viviana Trezza
Summary: The study aimed to test the effects of different doses of psilocybin on cognitive deficits in autism spectrum disorder (ASD) and fragile X syndrome (FXS). The results showed that systemic and oral administration of psilocybin microdoses normalized the aberrant cognitive performance in a rat model of FXS, suggesting the potential therapeutic effects of psilocybin in mitigating ASD-related cognitive deficits.
PSYCHOPHARMACOLOGY
(2023)
Article
Neurosciences
Kaleb Dee Miles, Caleb Andrew Doll
Summary: Developmental changes in ionic balance play a crucial role in neural circuit formation. The shift of GABAergic neurotransmission from depolarizing to hyperpolarizing output is induced by changes in Cl- gradients and is delayed in Fragile X syndrome (FXS) models. The absence of FMRP protein, which regulates chloride transporter expression, can significantly impact FXS phenotypes. This perspective summarizes the expression of Cl- transporters and discusses the imbalances in inhibitory neurotransmission in FXS, highlighting potential therapeutic strategies.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Neurosciences
Xiaoyan Yu, Yuan Wang
Summary: Alterations in neuronal plasticity and critical periods are common across neurodevelopmental diseases, including Fragile X syndrome (FXS), which is characterized by sensory dysfunction. This study investigated the effects of global loss of Fragile X messenger ribonucleoprotein (FMRP) on deafferentation-induced neuronal changes and identified a novel peripheral mechanism of neurodevelopmental pathogenesis in FXS.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Review
Cell Biology
Rob Willemsen, R. Frank Kooy
Summary: Fragile X-related disorders are caused by expanded CGG repeats in the FMR1 gene and can manifest as either neurodegenerative or neurodevelopmental disorders. Mouse models have provided valuable insights into these disorders and their translational value for developing targeted therapies for intellectual disability and autism disorders.
DISEASE MODELS & MECHANISMS
(2023)
Article
Medicine, General & Internal
Ivonne Alexandra Bedei, Alexander Graf, Karl-Philipp Gloning, Matthias Meyer-Wittkopf, Daria Willner, Martin Krapp, Sabine Hentze, Alexander Scharf, Jan Degenhardt, Kai-Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai Jahns, Anne Geipel, Ismail Tekesin, Michael Elsaesser, Lucas Wilhelm, Ingo Gottschalk, Jan-Erik Baumuller, Cahit Birdir, Felix Zollner, Aline Wolter, Johanna Schenk, Tascha Gehrke, Corinna Keil, Jimmy Espinosa, Roland Axt-Fliedner
Summary: This study investigated the risk of Mirror syndrome in pregnancies complicated with Turner syndrome and fetal hydrops. The retrospective multicenter study found no cases of Mirror syndrome in Turner syndrome cases. The findings have implications for clinical management and parental counseling.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Summary: This study identified Prosbeta5 (PSMB5) as a candidate genetic modifier for FXTAS using a Drosophila model. Knockdown of PSMB5 suppressed CGG-associated neurodegeneration in flies and cells. Additionally, an expression quantitative trait locus variant in PSMB5 was associated with delayed onset of FXTAS in human carriers. These findings suggest a therapeutic strategy for FXTAS by targeting PSMB5.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Neurosciences
Kenneth A. Pelkey, Elizabeth Barksdale, Michael T. Craig, Xiaoqing Yuan, Madhav Sukumaran, Geoffrey A. Vargish, Robert M. Mitchell, Megan S. Wyeth, Ronald S. Petralia, Ramesh Chittajallu, Rose-Marie Karlsson, Heather A. Cameron, Yasunobu Murata, Matthew T. Colonnese, Paul F. Worley, Chris J. McBain
Article
Neurosciences
Julia Berzhanskaya, Marnie A. Phillips, Alexis Gorin, Chongxi Lai, Jing Shen, Matthew T. Colonnese
Article
Neurosciences
Jing Shen, Matthew T. Colonnese
JOURNAL OF NEUROSCIENCE
(2016)
Article
Biology
Yasunobu Murata, Matthew T. Colonnese
Article
Neurosciences
Matthew T. Colonnese, Jing Shen, Yasunobu Murata
FRONTIERS IN CELLULAR NEUROSCIENCE
(2017)
Article
Neurosciences
Matthew T. Colonnese
JOURNAL OF NEUROSCIENCE
(2014)
Article
Neurosciences
Yasunobu Murata, Matthew T. Colonnese
JOURNAL OF NEUROSCIENCE
(2018)
Review
Neurosciences
Matthew Colonnese, Rustem Khazipov
Article
Neurosciences
Marnie A. Phillips, Matthew T. Colonnese, Julie Goldberg, Laura D. Lewis, Emery N. Brown, Martha Constantine-Paton
Article
Multidisciplinary Sciences
Mathilde Chipaux, Matthew T. Colonnese, Audrey Mauguen, Laure Fellous, Mostafa Mokhtari, Oscar Lezcano, Mathieu Milh, Olivier Dulac, Catherine Chiron, Rustem Khazipov, Anna Kaminska
Review
Neurosciences
Yasunobu Murata, Matthew T. Colonnese
Article
Multidisciplinary Sciences
Yasunobu Murata, Matthew T. Colonnese
Article
Neurosciences
Pouria Riyahi, Marnie A. Phillips, Matthew T. Colonnese
Summary: Research on mammalian isocortex development shows a progressive increase in background activity during early stages. In the visual cortex of mice, continuous spontaneous activity is shown to be regulated by mechanisms internal to thalamus and cortex, rather than by the primary sensory input.
Article
Biology
Ruben A. Tikidji-Hamburyan, Gubbi Govindaiah, William Guido, Matthew T. Colonnese
Summary: The developing visual thalamus and cortex refine connectivity by extracting positional information through synaptic plasticity. However, developing synapses and circuits have evolved mechanisms to compensate for detrimental parasitic correlations.