News

Genetic screening for fragile X syndrome should be available to all pregnant women and to those considering having a child, regardless of family history or fertility issues, a study suggests. The study, “Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those…

A new case report described a characteristic imaging pattern of fragile X‑associated tremor/ataxia syndrome (FXTAS) in a 63-year-old man, which included white matter lesions in a brain region called the cerebellum. The study, “MRI findings in fragile X‑associated tremor/ataxia syndrome,” was published in the journal…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Exposure to sound at an early age may prevent brain changes related to sound hypersensitivity in people with fragile X syndrome, a study in a mouse model suggests.  The study, “Beneficial effects of sound exposure on auditory cortex development in…

Distinct neurodegenerative disorders can occur simultaneously in the same individual, as described in a case report of a man with fragile X-associated tremor-ataxia syndrome (FXTAS) and progressive supranuclear palsy (PSP). Analysis of his brain alterations suggested that the two conditions developed independently. The research, “Fragile X-associated tremor…

One in every 777 pregnant women in Taiwan carries a premutation in the FMR1 gene, which is associated with a greater likelihood of having a child with fragile X syndrome, a large study reports. This is a higher-than-anticipated prevalence, although lower than Western populations, the scientists noted. The research, “…

Healx has secured $56 million to develop its Rare Treatment Accelerator program that is designed to help develop new therapies for people with fragile X syndrome and other disorders. With the planned Nov. 18 launch of its program, U.K.-based Healx and partner patient groups seek to cost-effectively merge…

A single-step genetic test that quantifies a specific mark in the FMR1 gene may help diagnose cases of fragile X syndrome that are not identified by current approaches, a new study reports. Titled “Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for…

Precision grip tests could help doctors to identify and monitor fragile X-associated tremor-ataxia syndrome (FXTAS), a common condition in families affected by fragile X syndrome, a study reports. Subtle alterations in motor abilities are seen as a normal part of aging, but some changes like hand tremors may be…

Similar to people with fragile X syndrome, those with autism spectrum disorder (ASD) have low blood levels of cholesterol compared to healthy individuals, a study suggests. The findings indicate that having ASD and low cholesterol levels increase the risks for intellectual disability and anxiety/depression. Although additional studies are still needed…