Fragile X syndrome, or FXS, a leading genetic cause of autism, affects around one in 4,000 males and one in 6,000 females. Its symptoms include increased anxiety, intellectual disability, repetitive behaviors, social communication ...
Dec 13, 2021
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Mark Bear, Picower Professor of Neuroscience at MIT, recalls the "eureka moment" 20 years ago when he realized that a severe developmental brain disorder—fragile X syndrome—might be treated with drugs that inhibit a neurotransmitter ...
Sep 29, 2021
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A "brain organoid" model using human cells matches molecular and pharmacological aspects of fragile X syndrome more closely than mouse versions, Emory scientists report. The results were published Thursday in Nature Neuroscience.
Aug 20, 2021
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An experimental treatment produced improvements in cognitive function and language in patients with fragile X syndrome, according to study results published on April 29 in Nature Medicine. Fragile X syndrome (known as FXS ...
Apr 29, 2021
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An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, ...
Apr 12, 2021
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Mouse models of neurodevelopmental disorders possess unique, sex-specific metabolic dysfunctions, according to a new study in eNeuro. Understanding the unique metabolic effects of each disorder in both animal models and humans ...
Apr 5, 2021
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A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics took a major step toward becoming a first-in-class treatment for Fragile X Syndrome, a leading genetic cause ...
Dec 12, 2020
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A tiny fish is helping scientists understand how the human brain processes sound, while also giving insight to autism spectrum disorder.
Nov 10, 2020
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The cause of fragile X syndrome (FXS), the most common inherited intellectual disability, is easy to see in the lab. Under electron microscopy, an affected X chromosome exhibits a deformed tip that gives the disorder its ...
Oct 23, 2020
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Structures called primary cilia—which act like TV antennas for cells to detect signals—are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from The University of Texas Health Science ...
Jul 30, 2020
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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".
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