Fragile X Syndrome News and Research

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Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.

National Institutes of Health develops research plan on Fragile X syndrome and associated disorders

The National Institutes of Health has developed a research plan to advance the understanding of fragile X syndrome and its associated conditions, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Fragile X syndrome causes intellectual and developmental disabilities and results from a mutation in a gene on the X chromosome.

20 Jul 2009

Measuring fragile X mental retardation

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.

24 Jun 2009

Small molecules might block mutant protein production in Huntington's disease

Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.

5 May 2009

Small molecules might block mutant protein production in Huntington's disease

3 May 2009

Melatonin medication helpful for sleep problems in children with autism, Fragile X syndrome

A study in the April 15 issue of the Journal of Clinical Sleep Medicine determined that over-the-counter melatonin medication can shorted the length of time it takes for children with autistic spectrum disorder (ASD), Fragile X Syndrome (FXS), or both to fall asleep at the beginning of the night.

15 Apr 2009

Guidance for evaluating menopause-like condition in girls and young women

A comprehensive plan to help health care professionals diagnose and treat primary ovarian insufficiency-a menopause-like condition affecting girls and young women that may occur years before normal menopause is expected-has been developed by a scientist at the National Institutes of Health.

5 Feb 2009

Discovery of the novel Fragile X granule could lead to new autism treatment

A Brown University research team has discovered something in the brain that could serve as a target for future autism and mental retardation treatments.

5 Feb 2009

Sociability traced to region of brain called amygdala

People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so.

29 Jan 2009

Biologists discover link between CGG repeats in DNA and neurological disorders

Researchers have long known that some repetitive DNA sequences can make human chromosomes "fragile," i.e. appearing constricted or even broken during cell divisions.

12 Jan 2009

New drug being tested for Fragile X syndrome

A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS).

6 Jan 2009

New system of scoring IQ tests taken by children with fragile X syndrome

Parents of children with intellectual disabilities have long been frustrated by intelligence quotient (IQ) testing that tells them little to nothing about the long-term learning potential of their children.

16 Dec 2008

New system of scoring IQ tests benefits children with intellectual disabilities

Parents of children with intellectual disabilities have long been frustrated by IQ testing that tells them little to nothing about their children's long-term learning potential. That's because the tests are scored according to the mean performance of children without disabilities, so the raw scores of many intellectually disabled children are converted to the lowest normalized score: typically a zero.

15 Dec 2008

Researchers urge physicians to test for fragile X gene mutations in patients of all ages

Writing in this week's Journal of the American Medical Association , UC Davis M.I.N.D. Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages.

25 Nov 2008

Neuroscientists discover a critical early step of memory formation

Researchers at the Johns Hopkins University School of Medicine report in the July issue of Neuron how nerve cells in the brain ensure that Arc, a protein critical for memory formation, is made instantly after nerve stimulation. Paradoxically, its manufacture involves two other proteins - including one linked to mental retardation - that typically prevent proteins from being made.

14 Sep 2008

Researchers discover that learning suffers if brain transcript isn't transported far out to end of neurons

Neuroscientists at Georgetown University Medical Center have solved a mystery that lies at the heart of human learning, and they say the solution may help explain some forms of mental retardation as well as provide clues to overall brain functioning.

10 Jul 2008

RNA toxicity contributes to neurodegenerative disease

Expanding on prior research performed at the University of Pennsylvania, Penn biologists have determined that faulty RNA, the blueprint that creates mutated, toxic proteins, contributes to a family of neurodegenerative disorders in humans.

27 May 2008

RNA toxicity contributes to neurodegenerative disease

21 May 2008

Genetic tags reveal secrets of memories' staying power in mice

A better understanding of how memory works is emerging from a newfound ability to link a learning experience in a mouse to consequent changes in the inner workings of its neurons.

21 Feb 2008

L-acetyl carnitine effective ADHD treatment for children with fragile X syndrome

Fragile X syndrome (FXS) is the most common hereditary form of mental retardation.

20 Feb 2008

New approach to genetic diagnosis in autism

A practical, stepwise approach to diagnosing genetic causes of autism and related disorders is proposed in the January issue of Genetics in Medicine, official journal of the American College of Medical Genetics (ACMG), published by Lippincott Williams & Wilkins.

7 Feb 2008