Fragile XSynapsesDendritic spinesMacro-orchidismGolgi stainFragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been ...
Fragile X syndrome (FXS) is the most common monogenic cause of inherited intellectual and developmental disabilities. Mavoglurant, a selective metabotropic glutamate receptor subtype-5 antagonist, has shown positive neuronal and behavioral effects in preclinical studies, but failed to demonstrate any ...
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported.The autopsy examination of a 62-year-old, modera...
Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as "intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation". This premutation ...
(FMR1). In the early onset form of this disorder, a full mutation is expressed in children who display intellectual disability. Such children exhibit an elongated face, prominent ears, and large testes. The adult variation of this disorder, termed the Fragile X-tremor/ataxia syndrome (FXTAS),...
Fragile X syndrome, also termed Martin-Bell syndrome or marker X syndrome, is the most common cause of inherited intellectual disability and autism and is the second most common cause of genetically associated mental deficiencies, after trisomy 21. Conservative estimates are that fragile X syndrome ...
Fragile X syndrome is caused by mutations in the FMR1 gene on the X chromosome, which prevent the gene's expression. This absence of the FMR1-encoded protein during brain development has been shown to cause the over-excitability in neurons associated with the syndrome. Now, for the first ...
3 ⅐ No. 5 review FMR1 and the fragile X syndrome: Human genome epidemiology review Dana C. Crawford, PhD1,2, Juan M. Acun˜a, MD3,4, and Stephanie L. Sherman, PhD5 The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms...