Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.
Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several years ago, MIT neuroscientist Mark Bear discovered that this mutation leads to overproduction of proteins found in brain synapses — the connections between […]
Researchers now have a much clearer understanding of how mutations in a single gene can produce the complex cognitive deficits characteristic of Fragile X Syndrome, the most common inherited form of intellectual disability. As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions. The […]
Children and adults with social withdrawal due to Fragile X syndrome, the most common cause of inherited intellectual disability and the most common known single gene cause of autism, may benefit from an experimental drug under study by pediatric neurologists at Rush Children’s Hospital at Rush University Medical Center. Rush is the only site in […]
In small, early clinical trials, adults and children with autism and Fragile X syndrome have shown improved communication and social behavior when treated with acamprosate, according to Craig Erickson, M.D., assistant professor of psychiatry at the Indiana University School of Medicine and chief of the Riley Hospital for Children Christian Sarkine Autism Treatment Center at […]
Researchers from Mount Sinai School of Medicine have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders (ASDs). The research is […]
Expression of a toxic RNA that leads to Fragile X Tremor Ataxia Syndrome is modifiable by genetic or pharmacologic means, according to new research from U-M Medical School scientists. In the study published online today in the journal Public Library Of Science Genetics, U-M’s Peter K. Todd, M.D., Ph.D., led a team of researchers who […]
Funding from an anonymous wealthy family has been the secret to progress, at long last, in developing drugs that show promise for helping millions of people worldwide with Fragile X syndrome, the most common genetic cause of autism. That’s the topic of a fascinating article in the current issue of Chemical & Engineering News (C&EN), […]
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