Posts by: Joana Carvalho

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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 ... Read more

July 23, 2019July 23, 2019

Unusual Behaviors of Fragile X Stop with OV101 Treatment, Study in Mouse Model Reports

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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 ... Read more

June 27, 2019June 27, 2019

Restoring FMR1 Activity and Protein Production in Cells May Be Possible, Early Study Says

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Restoring activity to the FMR1 gene — which is silenced in fragile X— using modulators that work to “turn on” gene expression and allow protein production to begin again ... Read more

June 20, 2019June 20, 2019

Long Noncoding RNAs May Be New Target for Diagnosis, Treatment of Fragile X Spectrum Disorders

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Long noncoding RNAs (lncRNAs) — long RNA molecules that do not provide instructions to make proteins and are thought to be involved in gene regulation — may become a ... Read more

June 11, 2019June 11, 2019

FXTAS Should be Considered in the Diagnosis of Patients With Essential Tremor Who Show Certain Signs, Study Says

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Fragile X-associated tremor/ataxia syndrome (FXTAS) should be considered in the diagnosis of patients with essential tremor who show signs of cerebellar involvement and/or drug-induced movement disorders (extrapyramidal signs), according to ... Read more

May 30, 2019May 30, 2019

Self-Injury and Aggressive Behaviors Highly Persistent Among Males, Longitudinal Study Says

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Self-injurious and aggressive behaviors are highly prevalent and persistent among males with fragile X syndrome (FXS), a study found. These results may have implications for early intervention strategies for ... Read more

March 22, 2019March 22, 2019

Qualitative Study Identifies Major Concerns of Young Adults With Fragile X and Their Parents

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Young adults with fragile X syndrome (FXS) and their parents have identified several areas of major concern, including those related to physical, psychological, social, and financial issues, in a qualitative ... Read more

March 12, 2019March 12, 2019

Decisional Capacity of Women With Fragile X Surpasses That of Men, Study Says

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Women with fragile X syndrome surpass men in their decisional capacity for informed consent about participation in clinical trials, a study says. The findings of the study, “Decisional Capacity for ... Read more

February 28, 2019February 28, 2019

Understanding of How Females Inherit Traits May Shed Light on Fragile X, Rett Syndromes, Study Says

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New understanding of the genetic mechanisms involved in female inheritance and X chromosome silencing may help shed light on disorders arising from defects in the X chromosome, including fragile ... Read more

February 1, 2019February 1, 2019

FXS Patients’ Social Deficits are Linked to Social Anxiety, Eye-tracking Study Says

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Using eye-tracking technologies, researchers have shown that patients with fragile X syndrome avoid direct eye contact and show signs of social deficits linked to social anxiety. But they do so ... Read more

Posts by: Joana Carvalho

Joana Carvalho

Posture Impairment May be Early Sign of FXTAS in Premutation Carriers

Unusual Behaviors of Fragile X Stop with OV101 Treatment, Study in Mouse Model Reports

Restoring FMR1 Activity and Protein Production in Cells May Be Possible, Early Study Says

Long Noncoding RNAs May Be New Target for Diagnosis, Treatment of Fragile X Spectrum Disorders

FXTAS Should be Considered in the Diagnosis of Patients With Essential Tremor Who Show Certain Signs, Study Says

Self-Injury and Aggressive Behaviors Highly Persistent Among Males, Longitudinal Study Says

Understanding of How Females Inherit Traits May Shed Light on Fragile X, Rett Syndromes, Study Says

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