Fragile X Syndrome
Neuroscientists find excessive protein synthesis linked to autistic-like behaviors
Autistic-like behaviors can be partially remedied by normalizing excessive levels of protein synthesis in the brain, a team of researchers has found in a study of laboratory mice. The findings, which appear in the latest ...
Autism spectrum disorders
Dec 23, 2012 |
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Newly discovered scaffold supports turning pain off
(Medical Xpress) -- Johns Hopkins scientists have discovered a "scaffolding" protein that holds together multiple elements in a complex system responsible for regulating pain, mental illnesses and other complex ...
Neuroscience
Jul 27, 2012 |
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Most common form of inherited intellectual disability may be treatable
Advancements over the last 10 years in understanding intellectual disability (ID, formerly mental retardation), have led to the once-unimaginable possibility that ID may be treatable, a review of more than 100 studies on ...
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Even in fruit flies, enriched learning drives need for sleep
Just like human teenagers, fruit flies that spend a day buzzing around the "fly mall" with their companions need more sleep. That's because the environment makes their brain circuits grow dense new synapses and they need ...
Medical research
Jun 23, 2011 |
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Researchers identify protein necessary for behavioral flexibility
Researchers have identified a protein necessary to maintain behavioral flexibility, which allows us to modify our behaviors to adjust to circumstances that are similar, but not identical, to previous experiences. Their findings, ...
Medical research
May 24, 2012 |
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Fragile X makes brain cells talk too much, research shows
The most common inherited form of mental retardation and autism, fragile X syndrome, turns some brain cells into chatterboxes, scientists at Washington University School of Medicine in St. Louis report.
Neuroscience
Feb 20, 2013 |
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Boosting natural marijuana-like brain chemicals treats fragile X syndrome symptoms
American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.
Autism spectrum disorders
Sep 25, 2012 |
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Fragile X protein linked to nearly 100 genes involved in autism
Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses ...
Genetics
Dec 12, 2012 |
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Next-generation treatments for Fragile X syndrome
A potential new therapeutic strategy for treating Fragile X syndrome is detailed in a new report appearing in the current issue of Biological Psychiatry, from researchers led by Dr. Lucia Ciranna at University of Catania in Ita ...
Psychology & Psychiatry
Nov 29, 2012 |
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Mutations in autism susceptibility gene increase risk in boys
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Autism spectrum disorders
Jul 12, 2012 |
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New targeted drug for treating fragile X syndrome, potentially autism, is effective
An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery ...
Diseases, Conditions, Syndromes
Sep 19, 2012 |
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Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Neuroscience
Nov 24, 2011 |
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Scientist discovers why drug boosts memory in Down syndrome mice
(Medical Xpress) -- A University of Colorado School of Medicine researcher who found a drug that improved memory in mice with Down syndrome has unlocked the mystery of how it works.
Medical research
Nov 24, 2011 |
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Researchers report success in treating autism spectrum disorder
Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.
Autism spectrum disorders
Jul 02, 2012 |
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New clue found for Fragile X syndrome-epilepsy link
Individuals with fragile X syndrome, the most common inherited form of intellectual disability, often develop epilepsy, but so far the underlying causes are unknown. Researchers have now discovered a potential ...
Medical research
Apr 12, 2011 |
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Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known single-gene cause of autism and the most common inherited cause of intellectual disability. It results in a spectrum of intellectual disability ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and larger testes (macroorchidism), behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome). A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counselling.
There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and aggression. Supportive management is important in optimising functioning in individuals with fragile X syndrome, and may involve speech therapy, occupational therapy, and individualised educational and behavioural programs.
J. Purdon Martin and Julia Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism (larger testicles). In 1969 Herbert Lubs first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site".
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
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