Fragile X Syndrome: An Update on Developing Treatment Modalities
نویسندگان
چکیده
منابع مشابه
Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline. This disorder occurs in both males and females, frequently in families with children who have fragile X syndrome. The clinical features of this disorder, both classic and newly described, are summarized ...
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Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overe...
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BACKGROUND Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany. METHODS/DESIGN EXPLAIN is a prospective, observational, longitudinal registry with a non-probabili...
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متن کاملThe 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...
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ژورنال
عنوان ژورنال: ACS Chemical Neuroscience
سال: 2011
ISSN: 1948-7193,1948-7193
DOI: 10.1021/cn200019z