News

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Lower levels of the FMRP protein in neural stem cells delay their conversion into neurons during brain development by disrupting the transport of RNA molecules, new research shows. Scientists say those decreased FMRP levels are likely linked to impaired learning and behavior in fragile X syndrome. These findings…

Posture impairment in young people carrying mutations associated with fragile X-associated tremor/ataxia syndrome may already be present before the onset of the first symptoms of the disorder, a study has found. The study, “Complexity based measures of postural stability provide novel evidence of functional decline in fragile X…

OV101 (gaboxadol) shows an ability to reverse the hyperactivity, irritability, anxiety, aggression and repetitive behaviors that are characteristic of fragile X syndrome, a study in a mouse model of the disease reports. These findings, “Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome,”…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Boys with fragile X syndrome who show high levels of social avoidance in infancy are more likely later to have increased severity in autism spectrum disorder symptoms but reduced severity in attention-deficit/hyperactivity symptoms and anxiety, a study finds. The study, “Infant Social Avoidance Predicts Autism but Not Anxiety in…

Midbrain atrophy, commonly referred to as the hummingbird or penguin sign, can be a manifestation of fragile X-associated tremor/ataxia syndrome (FXTAS) and can mimic progressive supranuclear palsy, a case report suggests. The case was described in the study “Late-onset hummingbird sign in a woman with…

Treatment with the Alzheimer’s therapy donepezil reduced brain activation in response to a gaze stimulus, but did not directly improve cognition or correct abnormal behavior in patients with fragile X syndrome (FXS), according to a 12-week Phase 2 trial. The study, “Brain circuitry, behavior, and cognition:…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce the load of inhibitory signals in the brain, resulting in “noise” that halts the ability to perceive and discriminate cues from the outside world, a study of fruit flies suggests. The study, “Reduced Lateral Inhibition…