Neuroanatomy of Fragile X Syndrome

The neuroanatomy and neuroendocrinology of fragile X syndrome.

Fragile X syndrome (FXS), caused by a single gene mutation on the X chromosome, offers a unique opportunity for investigation of gene-brain-behavior relationships. Recent advances in molecular genetics, human brain imaging, and behavioral studies have started to unravel the complex pathways leading to the cognitive, psychiatric, and physical features that are unique to this syndrome. In this ar...

Functional neuroanatomy of visuospatial working memory in fragile X syndrome: relation to behavioral and molecular measures.

OBJECTIVE Fragile X syndrome is a neurogenetic disorder that is the most common known heritable cause of neurodevelopmental disability. This study examined the neural substrates of working memory in female subjects with fragile X syndrome. Possible correlations among behavioral measures, brain activation, and the FMR1 gene product (FMRP expression), as well as between IQ and behavioral measures...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...