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November 21, 2019November 21, 2019

Study Lends Support for Fragile X Genetic Screening in All Pregnant Women

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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 ... Read more

November 19, 2019November 19, 2019

White Matter Lesions Among Brain MRI Pattern of FXTAS, Case Report Describes

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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 ... Read more

November 14, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

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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. ... Read more

November 14, 2019November 14, 2019

Early Sound Exposure May Prevent Hypersensitivity to Noise in Fragile X, Mouse Study Suggests

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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 ... Read more

November 12, 2019November 12, 2019

Fragile X Tremor-Ataxia Syndrome May Co-occur with Progressive Supranuclear Palsy, Case Study Reports

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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 ... Read more

November 7, 2019November 7, 2019

Study Finds Higher-than-expected Prevalence of FMR1 Premutation Carriers Among Pregnant Women in Taiwan

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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 ... Read more

November 5, 2019November 5, 2019

Healx Raises $56M to Launch Treatment Accelerator Program for Fragile X, Other Rare Diseases

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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. ... Read more

October 31, 2019October 31, 2019

New Genetic Test May Help Identify Previously Undiagnosed Cases of Fragile X, Study Reports

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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 ... Read more

October 29, 2019October 29, 2019

Grip Test Helps to Identify and Monitor Fragile X Tremor-Ataxia Syndrome in Adults, Study Suggests

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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 ... Read more

October 24, 2019October 24, 2019

Study Links Autism Spectrum Disorders, Including Fragile X, to Low Cholesterol Levels

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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 ... Read more

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