Functional Motor Control Deficits In Fragile X Mental Retardation 1 Gene Premutation Carriers
نویسندگان
چکیده
منابع مشابه
Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.
OBJECTIVE FM is a disorder of altered pain regulation and is characterized by pain, fatigue, poor sleep and psychological impairments; thus, it is classified as a central sensitivity syndrome. Female carriers of a premutation in the fragile X mental retardation 1 (FMR1) gene frequently have widespread musculoskeletal pain and sometimes have been diagnosed with FM, especially if they have the mo...
متن کاملDiffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene.
Older male premutation carriers of the FMR1 gene are associated with the risk of developing a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. Although previous postmortem and in vivo magnetic resonance imaging studies have indicated white matter pathology, the regional selectivity of abnormalities, as well as their relationship with molecular variables of the...
متن کاملDecreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.
BACKGROUND The fragile X premutation provides a unique opportunity for the study of genetic and brain mechanisms of behavior and cognition in the context of neurodevelopment and neurodegeneration. Although the neurodegenerative phenotype, fragile X-associated tremor/ataxia syndrome, is well described, evidence of a causal link between the premutation and psychiatric disorder earlier in life, cl...
متن کاملDevelopmental expression of Xenopus fragile X mental retardation-1 gene.
Dysregulation of Fragile X mental retardation-1 (Fmr1) gene expression results in an inherited form of mental retardation known as the Fragile X syndrome (FXS). Fmr1 is a highly conserved gene with a broad yet distinctive expression pattern during vertebrate development. Here, we examined the expression pattern of Fmr1 during Xenopus embryonic development. Zygotic expression of Fmr1 began just ...
متن کاملPremutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding
Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn-dependent mitochondrial protein import/processing and function. Given that mitochondria play a critical role in synaptic transmission, brain function, an...
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ژورنال
عنوان ژورنال: Medicine & Science in Sports & Exercise
سال: 2019
ISSN: 1530-0315,0195-9131
DOI: 10.1249/01.mss.0000561553.50534.18