PURPOSE OF REVIEW Fragile X syndrome is the most common form of inherited intellectual disability. Over the past 2 decades, insights into the cause of this disease have increased tremendously. This review will highlight recent discoveries with an emphasis on biochemical pathways affected in the disorder that are potentially amenable to treatment. RECENT FINDINGS Recent work in the field demon...

Nearly 15 years ago, female carriers of the fragile X mental retardation syndrome were noted to have an increased incidence of twin pregnancies. Since then, much evidence has accumulated supporting the notion of ovarian dysfunction in fragile X carriers, in the forms of increased dizygotic twinning and premature ovarian failure. However, despite a decade and a half of research regarding this as...

BACKGROUND/OBJECTIVE The fragile X-associated tremor/ataxia syndrome is characterized by intention tremor and ataxia in people who are premutation carriers of the Fragile X gene. Patients with this disorder might also demonstrate signs of dementia with parkinsonian features. We report a patient with dementia and parkinsonian signs who did not demonstrate an intention tremor or gait ataxia. ME...

Fragile X syndrome is the major cause of inherited mental retardation. The molecular basis for the expression of the fragile X phenotype is the expansion of an unstable CGG repeat element which inhibits transcription of the FMR1 gene. The fragile X syndrome shows great diversity in its phenotype as well as in its cytogenetic and molecular status. We have studied, in a large fragile X family, th...