Fragile X syndrome

RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

C Bagni, WT Greenough - Nature Reviews Neuroscience, 2005 - nature.com
The mental retardation protein FMRP is involved in the transport of mRNAs and their
translation at synapses. Patients with fragile X syndrome, in whom FMRP is absent or …

Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome

JL Olmos-Serrano, SM Paluszkiewicz… - Journal of …, 2010 - Soc Neuroscience
Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by variable
cognitive impairment and behavioral disturbances such as exaggerated fear, anxiety and …

The pathophysiology of fragile x syndrome

O Penagarikano, JG Mulle… - Annu. Rev. Genomics …, 2007 - annualreviews.org
Fragile X syndrome is the most common form of inherited mental retardation. The disorder is
mainly caused by the expansion of the trinucleotide sequence CGG located in the 5′ UTR …

Abnormal structure or function of the amygdala is a common component of neurodevelopmental disorders

CM Schumann, MD Bauman, DG Amaral - Neuropsychologia, 2011 - Elsevier
The amygdala, perhaps more than any other brain region, has been implicated in numerous
neuropsychiatric and neurodevelopmental disorders. It is part of a system initially evolved to …

Sex-specific gene–environment interactions underlying ASD-like behaviors

SM Schaafsma, K Gagnidze, A Reyes… - Proceedings of the …, 2017 - National Acad Sciences
The male bias in the incidence of autism spectrum disorders (ASDs) is one of the most
notable characteristics of this group of neurodevelopmental disorders. The etiology of this …

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1

S Jacquemont, RJ Hagerman, PJ Hagerman… - The Lancet …, 2007 - thelancet.com
Recent advances in our understanding of the clinical and molecular features of the fragile-X
mental-retardation 1 gene, FMR1, highlight the importance of single-gene disorders. 15 …

Open-label add-on treatment trial of minocycline in fragile X syndrome

C Paribello, L Tao, A Folino, E Berry-Kravis… - BMC neurology, 2010 - Springer
Abstract Background Fragile X syndrome (FXS) is a disorder characterized by a variety of
disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and …

Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome

SS Hall, AA Lightbody, AL Reiss - American Journal on …, 2008 - meridian.allenpress.com
Compulsive, self-injurious, and autistic behaviors were examined in 31 boys and 29 girls
with fragile X syndrome aged 5 to 20 years. Self-injurious behavior occured in 58% of boys …

Associated features in females with an FMR1 premutation

AC Wheeler, DB Bailey Jr, E Berry-Kravis… - Journal of …, 2014 - Springer
Abstract Changes in the fragile X mental retardation 1 gene (FMR1) have been associated
with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X …