Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of ...

Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.

What causes it? “Fragile X syndrome is caused by a change in the FMR1 gene, and the FMR1 gene is located on the X chromosome,” explains Richardson. “This abnormal gene, which can be passed ...

Scheduled Feeding improved sleep/wake rhythms in the Fmr1 KO mutants.

The FREE methylation test has been closely related to FMR1 protein expression and identified fragile X syndrome (FXS)-affected males and females with 100% specificity in our small study (75 male ...

MIT neuroscientists have made a breakthrough in treating fragile X syndrome by leveraging a novel neurotransmitter signaling ...

A recent theory about the basis for fragile ... fragile X syndrome (FXS), an inherited form of mental retardation and the predominant monogenetic cause of autism. The study is also a genetic ...

For example, mutations in the FMR1 gene on the X chromosome cause fragile X syndrome, a condition associated with intellectual disability. Turner syndrome, a condition where females are born with only ...

Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, ...

MIT researchers suggests a potential molecular strategy for treating fragile X syndrome by enhancing NMDA subunit function.

Neuroscience specialist Harmony Biosciences has agreed to acquire Zynerba, adding its cannabidiol (CBD) gel product Zygel for Fragile X syndrome ... a mutation in the FMR1 gene.