Steve Bryson, PhD,  science writer—

Gene therapy rescued several behavioral and brainwave abnormalities seen in a rat model of fragile X syndrome. Findings from the study support further development of gene therapy for treating people people with the condition, the scientists said. The study, “Gene Therapy Using an Orthologue of Human…

Abnormal protein production associated with fragile X syndrome was coupled with altered cell growth that favored fast-growing cell types over those that become nerve cells during early development, a study has shown.  Blocking a signaling pathway known as PI3K corrected both excess protein production and…

An analysis of proteins in brain tissue from men with advanced fragile X-associated tremor/ataxia syndrome (FXTAS) found an overall decrease in the abundance of key proteins compared with samples from those without this disease, a study reported. These findings provide insight into mechanisms of FXTAS, and identified potential biomarkers…

Eye-tracking technology has identified atypical visual attention patterns in women who carry the FMR1 premutation, a condition related to fragile X syndrome, that occurs later in life, a study reported.  These findings imply that visual attention patterns…

Brain scans in men with fragile X syndrome showed reduced levels of the mGluR5 receptor — a protein receptor known to help regulate nerve cell communication — compared with healthy men, a pilot study found.  These findings may help explain the failure of…

School-aged girls with fragile X syndrome are less aware of bullying than children of the same age and intellectual abilities, a study suggests. These findings indicate that difficulties in interpreting social signals could place these girls in vulnerable situations. Developing socials skills…

Low levels of pro-inflammatory proteins in the blood suggest that inflammation is not a hallmark of fragile X syndrome, according to a new study. The findings also indicated that assessing the levels of 16 proteins may be useful for diagnosing, classifying, and monitoring fragile X progression.

Providing a fragment of the FMRP protein, which is missing in people with fragile X syndrome, eased hyperactivity and restored nerve cell communication in the brain, a study in a mouse model found. The study, “FMRP(1–297)-tat restores ion channel and synaptic function…

A tool to assess language, called expressive language sampling (ELS), found that people with fragile X syndrome have less complex speech, more disruptions in speech, greater talkativeness, and a lesser ability to be understood than those with typical development, a study…

Specific cognitive deficits in mothers of children with fragile X syndrome are significantly linked to their genetic profile and are worse in older age, a study has found. The study, “Inhibition deficits are modulated by age…