Mavoglurant Improves Visual Attention in Fragile X Syndrome
Increases noted in total absolute looking time, number of fixations to eye region while viewing faces (Source: The Doctors Lounge - Psychiatry)
Source: The Doctors Lounge - Psychiatry - January 23, 2019 Category: Psychiatry Tags: Neurology, Pediatrics, Pharmacy, Psychiatry, Journal, Source Type: news
Mavoglurant Improves Visual Attention in Fragile X Syndrome
WEDNESDAY, Jan. 23, 2019 -- For patients with fragile X syndrome (FXS), mavoglurant treatment improves visual attention and pupil reactivity, according to a study published online Jan. 17 in PLOS ONE.
David Hessl, Ph.D., from the University of... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - January 23, 2019 Category: Pharmaceuticals Source Type: news
Scientists reverse a sensory impairment in mice with autism
Using a genetic technique that allows certain neurons in the brain to be switched on or off, UCLA scientists reversed a sensory impairment in mice with symptoms of autism, enabling them to learn a sensory task as quickly as healthy mice.Thefindings, which appear in the journal Nature Neuroscience, offer an intriguing glimpse of a potential strategy to help people with autism make sense of what their eyes see.In humans, the ability to perceive visual information is critical to learning of all kinds, including the interpretation of social cues. In children with autism, avoiding eye contact and struggling to understand people...
Source: UCLA Newsroom: Health Sciences - September 24, 2018 Category: Universities & Medical Training Source Type: news
Penn researchers: Class of neurological disorders share 3D genome folding pattern
(University of Pennsylvania) Researchers at the University of Pennsylvania have found a new common thread linking nearly all of the trinucleotide repeat expansion diseases, which include ALS, Huntington's Disease and Fragile X Syndrome, involving the complicated 3D patterns that the DNA is folded into in order to fit in the nucleus of the cell. Nearly all of the short tandem repeats known to grow unstable in disease are located at the boundaries that separate neighboring folded domains. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 18, 2018 Category: International Medicine & Public Health Source Type: news
Turning up translation in fragile X syndrome
(Source: ScienceNOW)
Source: ScienceNOW - August 16, 2018 Category: Science Authors: Aryal, S., Klann, E. Tags: Development perspective Source Type: news
Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins
Mutations in the fragile X mental retardation 1 gene (FMR1) cause the most common inherited human autism spectrum disorder. FMR1 influences messenger RNA (mRNA) translation, but identifying functional targets has been difficult. We analyzed quiescent Drosophila oocytes, which, like neural synapses, depend heavily on translating stored mRNA. Ribosome profiling revealed that FMR1 enhances rather than represses the translation of mRNAs that overlap previously identified FMR1 targets, and acts preferentially on large proteins. Human homologs of at least 20 targets are associated with dominant intellectual disability, and 30 ot...
Source: ScienceNOW - August 16, 2018 Category: Science Authors: Greenblatt, E. J., Spradling, A. C. Tags: Development reports Source Type: news
Fragile X: New drug strategy corrects behavior/biochemical measures in mouse model
(Emory Health Sciences) Research in mice shows that a pharmacological strategy can alleviate multiple behavioral and cellular deficiencies in a mouse model of fragile X syndrome, the most common inherited form of intellectual disability. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 13, 2018 Category: International Medicine & Public Health Source Type: news
CRISPR-Cas9 Gene Editing Reduces Repetitive Behavior In Mice With Autism-Like Syndrome
researchers have utilized CRISPR-Cas9 gene editing in mice with a form of Fragile X Syndrome to alter gene expression, resulting in reduction of repetitive behaviors. Fragile X Syndrome (FXS) is the most commonly identified single-gene cause of autism spectrum disorder (ASD). (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - June 25, 2018 Category: Pharmaceuticals Authors: Robert Glatter, MD, Contributor Source Type: news
CRISPR editing reduces repetitive behavior in mice with a form of autism
(University of California - Berkeley) Mice with fragile X syndrome are a common model for autism because the mice exhibit exaggerated repetitive behavior typical of the disorder. UC Berkeley and UT San Antonio researchers have for the first time gotten CRISPR into the brain to successfully edit a gene and reduce repetitive behavior. The CRISPR-Gold technique knocked out a gene for a neurotransmitter receptor, damping overexcitation and associated burying behavior. The technique could allow CRISPR therapies for other brain disorders. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 25, 2018 Category: International Medicine & Public Health Source Type: news
Examining the influence of social-environmental variables on self-injurious behaviour in adolescent boys with fragile X syndrome - Hall SS, Hustyi KM, Barnett RP.
BACKGROUND: Individuals with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, are at increased risk for showing specific forms of self-injurious behaviour (SIB) such as hand biting and head hitting, suggesting that... (Source: SafetyLit)
Source: SafetyLit - April 30, 2018 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
White Matter Tracts Differ for Infants With Fragile X Syndrome
Significant differences identified in the development of 12 fiber tracts between FXS, controls (Source: The Doctors Lounge - Psychiatry)
Source: The Doctors Lounge - Psychiatry - April 9, 2018 Category: Psychiatry Tags: Neurology, Pathology, Pediatrics, Psychiatry, Journal, Source Type: news
White Matter Tracts Differ for Infants With Fragile X Syndrome
MONDAY, April 9, 2018 -- There are significant differences in the development of 12 fiber tracts between infants with fragile X syndrome (FXS) and controls, according to a study published online April 4 in JAMA Psychiatry.
Meghan R. Swanson, Ph.D.,... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - April 9, 2018 Category: Pharmaceuticals Source Type: news
Main Line pharma company plans key study of Fragile X syndrome therapy
Zynerba Pharmaceuticals said Monday it plans — with the Food and Drug Administration's approval — to initiate a single pivotal study later this year to support a new drug application for its experimental cannabis-based treatment for Fragile X Syndrome.
Fragile X is a rare genetic developmental disability that is a leading known cause of b oth inherited intellectual disability and autism spectrum disorder. It affects an estimated one in 3,600 to 4,000 males and one in 4,000 to 6,000 females.… (Source: bizjournals.com Health Care News Headlines)
Source: bizjournals.com Health Care News Headlines - March 5, 2018 Category: Health Management Authors: John George Source Type: news
Fragile X syndrome neurons restored using CRISPR/Cas9-guided activation strategy
(Whitehead Institute for Biomedical Research) Fragile X syndrome is the most frequent cause of intellectual disability in males, affecting 1 out of 3600 boys born. For the first time, researchers at Whitehead Institute have restored activity to the fragile X syndrome gene in affected neurons using a modified CRISPR/Cas9 system that removes the methylation--the molecular tags that keep the mutant gene shut off--suggesting that this method may be useful for targeting diseases caused by abnormal methylation. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - February 21, 2018 Category: International Medicine & Public Health Source Type: news
Finding unravels nature of cognitive inflexibility in Fragile X syndrome
(New York University) Mice with the genetic defect that causes Fragile X syndrome (FXS) learn and remember normally, but show an inability to learn new information that contradicts what they initially learned, shows a new study by a team of neuroscientists. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 22, 2018 Category: International Medicine & Public Health Source Type: news
