Fragile X syndromeFragile X-associated tremor/ataxia syndromeFXTASFMR1 geneNeuropathologyThis review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain ...
This comprehensive review for healthcare professionals delves into the critical aspects of Fragile X syndrome (FXS), offering insights into its clinical presentation, diagnosis, and management. FXS, a leading cause of intellectual disability and autism spectrum disorder, often goes undiagnosed due to it...
The multiple molecular facets of fragile X-associated tremorataxia syndrome(脆性X相关性震颤症综合征的多个分子层面) 热度: Fragile X (FMR1) Mutation:脆性X基因(FMR1) 热度: a voxel-based morphometry study of grey matter loss in fragile x-associated tremorataxia syndrome(脆性x相关畸形综合征灰质...
Recently, a new syndrome has been associated with the FMR1 gene — fragile X tremor ataxia syndrome. The clinical presentation includes either gait ataxia or intention tremor at onset, and is associated with a wide range of neurological symptoms and signs, including cognitive impairment, parkinsonism...
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen ...
Fragile-X syndrome: Diagnosis, treatment and research Fragile X syndrome is the most common inherited form of mental retardation. Revised for its third edition, this book discusses the clinical approach to diagnosing the disorder, supported by current research, and presents... AL Reiss - 《American...
Fragile-X syndrome is the most common inherited cause of learning disability worldwide, with a prevalence of 1 in 4000 males and 1 in 8000 females. It is caused by a mutation of the FMR-1 (fragile-X mental retardation) gene located on the X chromosome. This contribution explores the genet...
Mutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome. Normally, the gene makes a protein called fragile X mental retardation protein (FMRP) that you need for brain development. But the FMR1 gene mutation causes a person to make little or none of the protein....
Adult women with fragile X syndrome have shown dysfunctional activation of prefrontal and parietal cortices during multiple tasks requiring executive control (e.g., Cornish, Swainson, et al., 2004; Menon, Leroux, White, & Reiss, 2004; Tamm, Menon, Johnston, Hessl, & Reiss, 2002). In ...
The purpose of this review is to present the latest findings on fragile X syndrome and to put them into perspective. Fragile X syndrome is a relatively common form of inherited mental retardation, caused by loss of function of the FMR1 gene on the long arm of the X chromosome. The molecula...