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https://www.readbyqxmd.com/read/28816242/effect-of-the-mglur5-nam-basimglurant-on-behavior-in-adolescents-and-adults-with-fragile-x-syndrome-in-a-randomized-double-blind-placebo-controlled-trial-fragxis-phase-2-results
#1
Eriene A Youssef, Elizabeth Berry-Kravis, Christian Czech, Randi J Hagerman, David Hessl, Chin Y Wong, Michael Rabbia, Dennis Deptula, Amy John, Russell Kinch, Philip Drewitt, Lothar Lindemann, Moritz Marcinowski, Rachel Langland, Carsten Horn, Paulo Fontoura, Luca Santarelli, Jorge A Quiroz
Preclinical data suggests that inhibition of the mGluR5 receptor might hold therapeutic benefits in Fragile X syndrome (FXS). Treatment of Fmr1 knockout mice with mGluR5-negative allosteric modulators (NAMs) has been reported to correct a broad range of phenotypes related to FXS. The early short-term clinical trials with mGluR5 NAMs, including basimglurant, assessing the effects in individuals with FXS, were supportive of further exploration in larger, well-controlled trials. We evaluated basimglurant, a potent and selective mGluR5 NAM, in a 12-week, double-blind, parallel-group study of 183 adults and adolescents (aged 14-50, mean 23...
August 17, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#2
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814542/fragile-x-newborn-screening-lessons-learned-from-a-multisite-screening-study
#3
Donald B Bailey, Elizabeth Berry-Kravis, Louise W Gane, Sonia Guarda, Randi Hagerman, Cynthia M Powell, Flora Tassone, Anne Wheeler
BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. METHODS: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814541/assessing-the-fragile-x-syndrome-newborn-screening-landscape
#4
Catharine Riley, Anne Wheeler
BACKGROUND: Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification. METHODS: A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28814538/implications-of-the-fmr1-premutation-for-children-adolescents-adults-and-their-families
#5
Anne Wheeler, Melissa Raspa, Randi Hagerman, Marsha Mailick, Catharine Riley
BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an FMR1 premutation, including possible implications into adulthood...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#6
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28772121/cell-type-specific-translation-profiling-reveals-a-novel-strategy-for-treating-fragile-x-syndrome
#7
Sophie R Thomson, Sang S Seo, Stephanie A Barnes, Susana R Louros, Melania Muscas, Owen Dando, Caoimhe Kirby, David J A Wyllie, Giles E Hardingham, Peter C Kind, Emily K Osterweil
Excessive mRNA translation downstream of group I metabotropic glutamate receptors (mGlu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially translating mRNAs that contribute to altered neural function are not known. We used translating ribosome affinity purification (TRAP) and RNA-seq to identify mistranslating mRNAs in CA1 pyramidal neurons of the FX mouse model (Fmr1(-/y)) hippocampus, which exhibit exaggerated mGlu1/5-induced long-term synaptic depression (LTD). In these neurons, we find that the Chrm4 transcript encoding muscarinic acetylcholine receptor 4 (M4) is excessively translated, and synthesis of M4 downstream of mGlu5 activation is mimicked and occluded...
August 2, 2017: Neuron
https://www.readbyqxmd.com/read/28744893/tonotopic-alterations-in-inhibitory-input-to-the-medial-nucleus-of-the-trapezoid-body-in-a-mouse-model-of-fragile-x-syndrome
#8
Elizabeth A McCullagh, Ernesto Salcedo, Molly M Huntsman, Achim Klug
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine, and GABA) in the auditory brainstem of Fmr1 knockout mice...
July 26, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28722023/potential-involvement-of-impaired-bkca-channel-function-in-sensory-defensiveness-and-some-behavioral-disturbances-induced-by-unfamiliar-environment-in-a-mouse-model-of-fragile-x-syndrome
#9
Maria Isabel Carreno-Munoz, Fabienne Martins, Maria Carmen Medrano, Elisabetta Aloisi, Susanna Pietropaolo, Corentin Dechaud, Enejda Subashi, Guillaume Bony, Melanie Ginger, Abdelmalik Moujahid, Andreas Frick, Xavier Leinekugel
In fragile X syndrome (FXS), sensory hypersensitivity and impaired habituation is thought to result in attention overload and various behavioral abnormalities in reaction to the excessive and remanent salience of environment features that would normally be ignored. This phenomenon, termed sensory defensiveness, has been proposed as the potential cause of hyperactivity, hyperarousal, and negative reactions to changes in routine that are often deleterious for FXS patients. However, the lack of tools for manipulating sensory hypersensitivity has not allowed the experimental testing required to evaluate the relevance of this hypothesis...
July 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#10
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28707277/open-label-allopregnanolone-treatment-of-men-with-fragile-x-associated-tremor-ataxia-syndrome
#11
J Y Wang, A M Trivedi, N R Carrillo, J Yang, A Schneider, C Giulivi, P Adams, F Tassone, K Kim, S M Rivera, N Lubarr, C-Y Wu, R W Irwin, R D Brinton, J M Olichney, M A Rogawski, R J Hagerman
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 premutation over the age of 50 years. Currently, no effective treatment is available. We performed an open-label intervention study to assess whether allopregnanolone, a neurosteroid promoting regeneration and repair, can improve clinical symptoms, brain activity, and magnetic resonance imaging (MRI) measurements in patients with FXTAS. Six patients underwent weekly intravenous infusions of allopregnanolone (2-6 mg over 30 min) for 12 weeks...
July 13, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28697590/prevalence-of-fragile-x-syndrome-among-children-receiving-special-education-and-carrier-states-in-first-degree-relatives
#12
B Chandrasekara, S Wijesundera, S S Chong, H N Perera
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children...
June 30, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#13
Rachael C Birch, Jonathan Cohen, Julian N Trollor
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed...
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28689930/long-term-verbal-memory-recall-deficits-in-fragile-x-premutation-females
#14
Annie L Shelton, Kim Cornish, Joanne Fielding
Carriers of a FMR1 premutation allele (between 55 and 199 CGG repeats) are at risk of developing a wide range of medical, psychiatric and cognitive disorders, including executive dysfunction. These cognitive deficits are often less severe for female premutation carriers compared to male premutation carriers, albeit similar in nature. However, it remains unclear whether female premutation carriers who exhibit executive dysfunction also report verbal learning and memory deficits like those of their male counterparts...
July 6, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28688003/increased-training-intensity-induces-proper-membrane-localization-of-actin-remodeling-proteins-in-the-hippocampus-preventing-cognitive-deficits-implications-for-fragile-x-syndrome
#15
L A Martinez, Maria Victoria Tejada-Simon
Behavioral intervention therapy has proven beneficial in the treatment of autism and intellectual disabilities (ID), raising the possibility of certain changes in molecular mechanisms activated by these interventions that may promote learning. Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by autistic features and intellectual disability and can serve as a model to examine mechanisms that promote learning. FXS results from mutations in the fragile X mental retardation 1 gene (Fmr1) that prevents expression of the Fmr1 protein (FMRP), a messenger RNA (mRNA) translation regulator at synapses...
July 8, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28674175/enhanced-excitatory-connectivity-and-disturbed-sound-processing-in-the-auditory-brainstem-of-fragile-x-mice
#16
Elisabet Garcia-Pino, Nikodemus Gessele, Ursula Koch
Hypersensitivity to sounds is one of the prevalent symptoms in individuals with Fragile X syndrome (FXS). It manifests behaviorally early during development and is often used as a landmark for treatment efficacy. However, the physiological mechanisms and circuit-level alterations underlying this aberrant behavior remain poorly understood. Using the mouse model of FXS (Fmr1 KO) we demonstrate that functional maturation of auditory brainstem synapses is impaired in FXS. Fmr1 KO mice showed a greatly enhanced excitatory synaptic input strength in neurons of the lateral superior olive (LSO), a prominent auditory brainstem nucleus, which integrates ipsilateral excitation and contralateral inhibition to compute interaural level differences (ILDs)...
July 3, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28667565/is-low-fmr1-cgg-repeat-length-in-males-correlated-with-family-history-of-brca-associated-cancers-an-exploratory-analysis-of-medical-records
#17
Hallee C Adamsheck, Elizabeth M Petty, Jinkuk Hong, Mei W Baker, Murray H Brilliant, Marsha R Mailick
The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28660769/platelets-as-a-surrogate-disease-model-of-neurodevelopmental-disorders-insights-from-fragile-x-syndrome
#18
David Pellerin, Audrey Lortie, François Corbin
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism spectrum disorders (ASD). Despite a large number of therapeutics developed in past years, there is currently no targeted treatment approved for FXS. In fact, translation of the positive and very promising preclinical findings from animal models to human subjects has so far fallen short owing in part to the low predictive validity of the Fmr1 ko mouse, an overly simplistic model of the complex human disease...
June 29, 2017: Platelets
https://www.readbyqxmd.com/read/28649315/effects-of-a-social-stimulus-on-gene-expression-in-a-mouse-model-of-fragile-x-syndrome
#19
Tiffany D Rogers, Allison M J Anacker, Travis M Kerr, C Gunnar Forsberg, Jing Wang, Bing Zhang, Jeremy Veenstra-VanderWeele
BACKGROUND: People with fragile X syndrome (FXS) often have deficits in social behavior, and a substantial portion meet criteria for autism spectrum disorder. Though the genetic cause of FXS is known to be due to the silencing of FMR1, and the Fmr1 null mouse model representing this lesion has been extensively studied, the contributions of this gene and its protein product, FMRP, to social behavior are not well understood. METHODS: Fmr1 null mice and wildtype littermates were exposed to a social or non-social stimulus...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28640668/absence-of-the-fragile-x-mental-retardation-protein-results-in-defects-of-rna-editing-of-neuronal-mrnas-in-mouse
#20
Alice Filippini, Daniela Bonini, Caroline Lacoux, Laura Pacini, Maria Zingariello, Laura Sancillo, Daniela Bosisio, Valentina Salvi, Jessica Mingardi, Luca La Via, Francesca Zalfa, Claudia Bagni, Alessandro Barbon
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice...
June 22, 2017: RNA Biology
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