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Last updated on April 16, 2014 at 11:02 EDT

Latest FMR1 Stories

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2010-05-04 08:14:51

These results, from the first longitudinal brain imaging studies of children with fragile X syndrome, were published online in this week's early edition of the Proceedings of the National Academy of Sciences Brain changes associated with the most common cause of mental retardation can be seen in magnetic resonance imaging (MRI) scans of children as young as one to three years old, according to a study by researchers at the University of North Carolina at Chapel Hill and Stanford University....

2010-04-09 07:45:16

Geneticists have known for two decades that fragile X syndrome, the most common inherited cause of intellectual disability, is due to the functional loss of fragile X mental retardation protein (FMRP) in the brain. Now they are beginning to understand how FMRP regulates signaling pathways in the brain that are essential for learning and memory in adults. Researchers at Emory University School of Medicine and the University of New Mexico School of Medicine have described new discoveries about...

2010-02-11 16:42:07

Scientists find sensory cortex develops late in fragile X syndrome defect Why do people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch "“ even from their parents? New research has found in fragile X syndrome there is delayed development of the sensory cortex, the part of the brain that responds to touch, according to a study from Northwestern University Feinberg School of Medicine....

2010-02-11 11:31:05

New research provides insight into why fragile X syndrome, the most common known cause of autism and mental retardation, is associated with an extreme hypersensitivity to sounds, touch, smells, and visual stimuli that causes sensory overload and results in social withdrawal, hyperarousal, and anxiety. The study, published by Cell Press in the February 11 issue of the journal Neuron, uncovers a previously unknown developmental delay in a critical brain circuit that processes sensory...

2009-12-08 09:00:00

WALNUT CREEK, Calif., Dec. 8 /PRNewswire/ -- The National Fragile X Foundation has awarded a translational research seed grant of $100,000 to Dr. Randi J. Hagerman at the UC Davis M.I.N.D. Institute in California for a study of minocycline in the treatment of children with fragile X syndrome (FXS). Hagerman is an internationally recognized clinician and clinical researcher on FXS, the most common cause of inherited mental impairment. The two-year study will evaluate the efficacy of...

2009-11-02 15:05:00

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability. There has to date been no medication that could alter the disorder's neurologic abnormalities. The study will evaluate safety, tolerability, and optimal dosage in healthy volunteers. The work is the outcome of basic research...

2009-10-23 13:56:38

A novel protein structure involved in hereditary neurodegeneration Fragile X tremor/ataxia syndrome (FXTAS) is a recently recognized condition, which is actually one of the most prevalent heritable neurodegenerative diseases. It is assumed that the condition is caused by deficiency for the protein Pur-alpha, which is essential for normal neural function. Structural studies undertaken by a team under the leadership of Dr. Dierk Niessing of the Helmholtz Zentrum Mnchen and the Gene Center at...

2009-08-26 15:50:19

U.S. scientists say they used a fruit fly's eyes to see proteins necessary for memory in a study that provides new data on fragile X mental retardation. Understanding translational control mechanisms in the brain teaches us how the brain learns and adapts, and will inform the design of treatments for specific types of neurologic disease, said Dr. Anne-Marie Cziko of the University of Arizona, co-author of the study. The researchers said they discovered the fragile X mental retardation protein...

2009-07-22 09:00:00

WALNUT CREEK, Calif., July 22 /PRNewswire/ -- Fragile X Syndrome (FXS) research is moving closer to finding a cure with the recent approval by The National Institutes of Health (NIH) of a comprehensive plan created by a group of leading scientists, parents and advocates. The Congressional Fragile X Caucus is convening a Congressional briefing to highlight the work of the NIH's Research Plan on Fragile X Syndrome and Associated Disorders and to celebrate National Fragile X Awareness Day in...

2009-06-24 08:28:44

Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. The related report by Iwahashi et al, "A quantitative ELISA assay for the fragile X mental retardation 1 protein," appears in the July 2009 issue of the Journal of Molecular Diagnostics.Fragile X syndrome is the most common form of inherited intellectual impairment. Nearly...