Fragile X-associated disorders: a clinical overview
作者： Anne Gallagher , Brian Hallahan
DOI: 10.1007/S00415-011-6161-3
关键词: Fragile x 、 Trinucleotide repeat expansion 、 FRAX 、 Bioinformatics 、 Genetics 、 Psychology 、 Neuropathology 、 Epidemiology 、 Neurology 、 Fragile X syndrome 、 Etiology
摘要: Fragile X Syndrome (FraX) is the most common inherited cause of learning disability worldwide. FraX an X-linked neuro-developmental disorder involving unstable trinucleotide repeat expansion cytosine guanine (CGG). Individuals with full mutation have >200 CGG repeats premutation carriers having 55–200 CGG repeats. A wide spectrum physical, behavioural, cognitive, psychiatric and medical problems been associated both FraX. In this review, we detail clinical profile examine aetiology, epidemiology, neuropathology, neuroimaging findings possible management strategies for individuals
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