Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by the absence or incorrect production ...
Nov 17, 2014
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The European Medicines Agency (EMA) has granted "orphan designation" to BMS 204352, a molecule developed by the CNRS to treat Fragile X Syndrome, a rare genetic disease for which there exists no treatment. Protocol assistance ...
Nov 17, 2014
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Standard scores measuring "adaptive behavior" in boys with fragile X syndrome tend to decline during childhood and adolescence, the largest longitudinal study of the inherited disorder to date has found.
Jul 29, 2014
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Because the severe autism-like condition Christianson Syndrome was only first reported in 1999 and some symptoms take more than a decade to appear, families and doctors urgently need fundamental information about it. A new ...
Jul 21, 2014
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Researchers at UC Davis have identified a new feature of the genetic mutation responsible for the progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS)—the formation of "R-loops," which ...
Apr 17, 2014
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With no cure available, Fragile X syndrome is the most common form of inherited intellectual disability. Individuals with the syndrome cannot produce enough of a protein—called the fragile X mental retardation protein (FMRP)—whose ...
Apr 17, 2014
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An American girl who was born with an extremely rare condition that kept her a toddler for life has died at the age of 20, her father told AFP Wednesday.
Oct 30, 2013
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When you experience something, neurons in the brain send chemical signals called neurotransmitters across synapses to receptors on other neurons. How well that process unfolds determines how you comprehend the experience ...
Oct 23, 2013
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(Medical Xpress)—Researchers at the Stanford University School of Medicine have identified several large-scale neural systems in the brain that appear to be impaired by fragile X syndrome, the most common form of inherited ...
Sep 26, 2013
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Several psychiatric conditions such as schizophrenia, autism and intellectual disabilities share the same brain cell abnormalities: the contacts (synapses) between brain cells are poorly developed and not functional. Claudia ...
Sep 18, 2013
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