Fragile X spectrum disorders
نویسندگان
چکیده
منابع مشابه
Fragile X spectrum disorders.
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles of dynamic mutations include the full mutation (> 200 CGG repeats), premutation (55-200 CGG repeats) and the gray zone mutation (45-54 CGG repe...
متن کاملFragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
متن کاملFragile X syndrome and associated disorders.
The past decades have witnessed staggering advances in the fields of molecular genetics, cognitive neuroscience, neuropsychiatry, and brain imaging. Collectively, these findings have pushed forward a new generation of research aimed at exploring the dynamic interplay between gene expression, developmental brain pathways, and neurocognitive profiles beginning in infancy and moving across the lif...
متن کاملTargeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes
Autism spectrum disorders (ASDs) are genetically and clinically heterogeneous and lack effective medications to treat their core symptoms. Studies of syndromic ASDs caused by single gene mutations have provided insights into the pathophysiology of autism. Fragile X and Rett syndromes belong to the syndromic ASDs in which preclinical studies have identified rational targets for drug therapies fo...
متن کاملAbnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome.
OBJECTIVES Multiple lines of evidence from genetic linkage studies to animal models implicate aberrant cortical plasticity and metaplasticity in the pathophysiology of autism spectrum disorder (ASD) and fragile X syndrome (FXS). However, direct experimental evidence of these alterations in humans with these disorders is scarce. Transcranial magnetic stimulation (TMS) is a noninvasive tool for p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Intractable & Rare Diseases Research
سال: 2014
ISSN: 2186-361X,2186-3644
DOI: 10.5582/irdr.2014.01022