Fragile X Syndrome Therapeutics S(C)TEP through the Developmental Window
نویسندگان
چکیده
Treatment for fragile X syndrome and related autism spectrum disorders has long been thought to be effective only during a narrow window early in development. In this issue of Neuron, Michalon et al. (2012) dispel this myth.
منابع مشابه
گزارش یک مورد سندرم ایکس شکننده همراه با ناهنجاری انگشتان
Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior di...
متن کاملDysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome
The Fragile X mental retardation protein (FMRP) regulates neuronal RNA metabolism, and its absence or mutations leads to the Fragile X syndrome (FXS). The β-amyloid precursor protein (APP) is involved in Alzheimer's disease, plays a role in synapse formation, and is upregulated in intellectual disabilities. Here, we show that during mouse synaptogenesis and in human FXS fibroblasts, a dual dysr...
متن کاملAltered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and results from the loss of the fragile X mental retardation protein (FMRP). Many fragile X-related cognitive and behavioral features emerge during childhood and are associated with abnormal synaptic and cellular organization of the cerebral cortex. Identifying the roles of FMRP in cortical development will p...
متن کاملLongitudinal profiles of adaptive behavior in fragile X syndrome.
OBJECTIVE To examine longitudinally the adaptive behavior patterns in fragile X syndrome. METHOD Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2-18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. RESULTS Standard scores of adaptive be...
متن کاملBehavioral phenotype of fragile X syndrome in adolescence and adulthood.
The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome; n = 135) on measures of autism symptoms, ...
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ورودعنوان ژورنال:
- Neuron
دوره 74 شماره
صفحات -
تاریخ انتشار 2012