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218 results for

Fragile X-Associated Tremor-Ataxia Syndrome

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181. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Full Text available with Trip Pro

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently described, underrecognized neurodegenerative disorder of aging fragile X mental retardation 1 (FMR1) premutation carriers, particularly men. Core motor features are action tremor, gait ataxia, and parkinsonism. Carriers have expanded CGG repeats (55 to 200); larger expansions cause fragile X syndrome, the most common heritable cause of mental retardation (...) carriers. Whereas this association is most pronounced for men and covers overall motor impairment-tremor, ataxia, and parkinsonism-the association exists for ataxia among women carriers. This is the first report of a significant correlation between the premutation status and a motor feature of fragile X-associated tremor/ataxia syndrome in women.

2007 Neurology

182. Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. (Abstract)

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. A new tremor-ataxia syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also have features of parkinsonism. Postmortem findings have (...) vacuolation of the cerebral white matter. As in one previous report, nuclear inclusions were also present in ependymal and choroid plexus cells. A new finding is that of nuclear inclusions in both the adeno- and neurohypophysis. These findings confirm the diffuse nature of this pathology. Further studies of clinical-pathological correlation in a larger sample of brains would provide additional insight into the mechanisms of the tremor, ataxia, and parkinsonism in these patients.(c) 2005 Movement Disorder

2006 Movement Disorders

183. Amygdala dysfunction in men with the fragile X premutation. Full Text available with Trip Pro

Amygdala dysfunction in men with the fragile X premutation. Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS, and perhaps the other clinical presentations among carriers, are thought to be due to toxic gain-of-function of elevated levels of the expanded-repeat FMR1 mRNA

2007 Brain

184. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Full Text available with Trip Pro

described for the fragile X-associated tremor/ataxia syndrome. These data suggest that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A. (...) CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify an elongated polymorphic CGG repeat as the molecular basis of FRA12A. This repeat is in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation

2007 American Journal of Human Genetics

185. The fragile-X premutation: a maturing perspective. Full Text available with Trip Pro

, fragile-X-associated tremor/ataxia syndrome (FXTAS). Awareness of these clinical presentations is important for proper diagnosis and therapeutic intervention, not only among families with known cases of fragile-X syndrome but also more broadly for adults with tremor, gait ataxia, and parkinsonism who are seen in movement-disorders clinics. (...) The fragile-X premutation: a maturing perspective. Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ovarian failure; and a newly described, neurodegenerative disorder of older adult carriers

2004 American Journal of Human Genetics

186. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. (Abstract)

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. A neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), occurs in some older men carrying a small CGG repeat expansion (pre-mutation) in the FMR1 gene. We surveyed a sample of older pre-mutation males to estimate the prevalence and spectrum of neurological involvement. Twelve pre-mutation males aged 50-82 years and 11 age-matched normal controls (...) ascertained in an unbiased manner were included in a neurological assessment that also used standard scales for tremor (Clinical Rating Scale for Tremor), ataxia (International Cooperative Ataxia Rating Scale, ICARS) and parkinsonian signs (Unified Parkinson's Disease Rating Scale). Axial FLAIR images of the brain, and neuropsychological and molecular tests were also conducted in pre-mutation carriers. The neurological disorder meeting all the criteria for diagnosis of 'definite' to 'possible' FXTAS

2005 Clinical Genetics

187. Fragile X and reproduction. (Abstract)

Fragile X and reproduction. To review the recent literature on fragile X and the genotypic and phenotypic implications on human reproduction.Fragile X syndrome is the most common inherited cause of mental retardation and the most common genetic cause of autism. The fully expanded form of the mutation leads to mental retardation and autism, whereas the premutation can lead to a neurological disorder called fragile X-associated tremor/ataxia, macroorchidism after puberty and premature ovarian (...) failure. Fragile X is also a major cause of premature ovarian failure and irregular menses, and it can subsequently affect fertility. Couples who carry the premutation or full mutation should be offered genetic and preconceptual counseling prior to attempting to conceive. This allows the patient full disclosure about the risks of transmitting the mutation and possible preventive measures, which allows them to formulate educated decisions about their reproductive future.Clinicians should identify

2008 Current Opinion in Obstetrics and Gynecology

188. Abnormal nerve conduction features in fragile x premutation carriers. Full Text available with Trip Pro

Abnormal nerve conduction features in fragile x premutation carriers. Distal neuropathy is part of the clinical phenotype in most males with the fragile X-associated tremor/ataxia syndrome (FXTAS) caused by the 55 to 200 CGG repeat expansion.We performed nerve conduction studies in 16 male carriers with FXTAS, 11 non-FXTAS carriers, and 11 control subjects and assessed the outcomes with respect to the fragile X mental retardation 1 genotype (FMR1) (Online Mendelian Inheritance in Man [OMIM

2008 Archives of Neurology

189. RNA binding proteins hnRNP A2/B1 and CUGBP1 suppress Fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS Full Text available with Trip Pro

RNA binding proteins hnRNP A2/B1 and CUGBP1 suppress Fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently described neurodegenerative disorder of older adult carriers of premutation alleles (60-200 CGG repeats) in the fragile X mental retardation gene (FMR1). It has been proposed that FXTAS is an RNA-mediated neurodegenerative disease caused by the titration of RNA-binding proteins by the CGG

2007 Neuron

190. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation Full Text available with Trip Pro

. Elderly carriers of the premutation, defined as a repeat length between 55 and 200 CGGs, can develop a progressive neurodegenerative syndrome: Fragile X-associated tremor/ataxia syndrome (FXTAS). In FXTAS, FMR1 mRNA levels are elevated and it has been hypothesised that FXTAS is caused by a pathogenic RNA gain-of-function mechanism. We have developed a knock in mouse model carrying an expanded CGG repeat (98 repeats), which shows repeat instability and displays biochemical, phenotypic (...) Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation The human FMR1 gene contains a CGG repeat in its 5' untranslated region. The repeat length in the normal population is polymorphic (5-55 CGG repeats). Lengths beyond 200 CGGs (full mutation) result in the absence of the FMR1 gene product, FMRP, through abnormal methylation and gene silencing. This causes Fragile X syndrome, the most common inherited form of mental retardation

2006 Experimental cell research

191. Fragile X syndrome

ovarian insufficiency in women and the fragile X-associated tremor/ataxia syndrome (FXTAS; see this term). In some rare cases, FXS was shown to result from intragenic FMR1 point mutations or deletions. FMR1 codes for the FMRP, an RNA-binding protein that regulates protein synthesis and other signaling pathways in neuronal dendrites. FMR1 silencing is thought to reduce synaptic plasticity and modulation throughout the brain including the hippocampus. Diagnostic methods Diagnosis cannot be based (...) of information on the Orphanet website are accepted. For all other comments, please send your remarks via . Only comments written in English can be processed. Check this box if you wish to receive a copy of your message * " for="captcha" >Please reproduce the text below: * Fragile X syndrome Disease definition Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features. ORPHA:908

2005 Orphanet

192. Size bias of fragile X premutation alleles in late-onset movement disorders. Full Text available with Trip Pro

Size bias of fragile X premutation alleles in late-onset movement disorders. Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by premutation expansions (55-200 CGG repeats) of the FMR1 gene, shares clinical features with other movement disorders, particularly in the domains of gait ataxia, intention tremor and parkinsonism. However, the prevalence of FXTAS within other diagnostic categories is not well defined.A meta-analysis was conducted of all published (n = 14) genetic screens

2006 Journal of Medical Genetics

193. Fragile X Syndrome

. People in whom the sequence is repeated over 200 times have the full mutation, which causes a deficiency in FMRP and thereby the full clinical syndrome. If there are between 55 and 200 repeats, there may be a "premutation". In these individuals, FMRP is produced but there is a risk of expansion in subsequent generations. The premutation alleles also confer a risk of associated fragile-X disorders (fragile X-associated tremor/ataxia disorder and fragile X-associated primary ovarian insufficiency (...) Guidelines. You may find one of our more useful. In this article In This Article Fragile X Syndrome In this article Fragile X syndrome (FXS) is an inherited condition which presents with typical behavioural, developmental and physical problems. Genetics [ , ] FXS is the most common cause of sex-linked, general learning disability. It is one of a number of repeat expansion disorders. In DNA coding it is common to see repeated sequences of the nucleotides that make up the genetic strand. In FXS

2008 Mentor

194. Screening for Fragile X Syndrome

. People in whom the sequence is repeated over 200 times have the full mutation, which causes a deficiency in FMRP and thereby the full clinical syndrome. If there are between 55 and 200 repeats, there may be a "premutation". In these individuals, FMRP is produced but there is a risk of expansion in subsequent generations. The premutation alleles also confer a risk of associated fragile-X disorders (fragile X-associated tremor/ataxia disorder and fragile X-associated primary ovarian insufficiency (...) and European Guidelines. You may find one of our more useful. In this article In This Article Fragile X Syndrome In this article Fragile X syndrome (FXS) is an inherited condition which presents with typical behavioural, developmental and physical problems. Genetics [ , ] FXS is the most common cause of sex-linked, general learning disability. It is one of a number of repeat expansion disorders. In DNA coding it is common to see repeated sequences of the nucleotides that make up the genetic strand. In FXS

2008 Mentor

195. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Full Text available with Trip Pro

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are frequent in the general population, with estimated prevalences of 1 per 259 females and 1 per 813 males. Several articles have recently described the presence of late-onset neurological symptoms in male carriers of premutation (FMR1) alleles. The main clinical features described in this newly (...) identified syndrome are cerebellar ataxia and intention tremor. Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction.To study the penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) among premutation carriers.Family-based study of 192 individuals (premutation carriers and controls) whose families belong to the Northern

2004 JAMA

196. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Full Text available with Trip Pro

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity (...) that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.

2005 Brain

197. Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of Fragile X Tremor/Ataxia Syndrome Full Text available with Trip Pro

Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of Fragile X Tremor/Ataxia Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently recognized neurodegenerative disorder in fragile X premutation carriers with FMR1 alleles containing 55-200 CGG repeats. Previously, we developed a Drosophila model of FXTAS and demonstrated that transcribed premutation repeats alone are sufficient to cause neurodegeneration, suggesting that rCGG (...) the disease mechanism of FXTAS of rCGG repeat sequestration of specific RBPs, leading to neuronal cell death, and implicate that Pur alpha plays an important role in the pathogenesis of FXTAS.

2007 Neuron

198. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Full Text available with Trip Pro

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of a premutation expansion (55 to 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.Volumetric MRI studies, clinical staging, cognitive testing, and molecular analysis were conducted in 15 female premutation carriers affected by FXTAS (age 59.5 (...) sign) in females affected by FXTAS (13%) compared with affected males (58%). We found reduced brain volumes and increased white matter disease associated with the presence of FXTAS in females compared with female controls. We also observed significant associations between reduced cerebellar volume and both increased severity of FXTAS symptoms and increased length of the CGG repeat expansion in male premutation carriers, but not in females.Females affected by fragile X-associated tremor/ataxia

2007 Neurology

199. Fragile X-associated tremor/ataxia syndrome (FXTAS). Full Text available with Trip Pro

of male premutation carriers over 50 years of age develop the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS also represents a new form of inclusion disease, with eosinophilic intranuclear inclusions found throughout the brain in both neurons and astrocytes. Because FXTAS appears to be relatively specific to male premutation carriers, who are known to possess elevated levels of FMR1 mRNA, the neuropathology may arise as a consequence of a toxic gain-of-function of the mRNA itself, although (...) Fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, and autonomic dysfunction. In excess of one-third

2004 Mental Retardation and Developmental disabilities Research Reviews

200. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. (Abstract)

Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. We describe the medical course, neuropathology and testicular pathology in 2 men who died with fragile X associated tremor/ataxia syndrome. Fragile X associated tremor/ataxia syndrome, which is a recently described, late onset neurodegenerative disorder, affects up to a third of males and occasionally females older than age 50 years who are carriers of premutation alleles (55 to 200 CGG repeats (...) eosinophilic intranuclear inclusions in neurons and astrocytes throughout the central nervous system, and in the anterior and posterior pituitary gland of 1 of the 2 men. Inclusions were also seen in the Leydig and myoid cells in the testicles of these 2 men with fragile X associated tremor/ataxia syndrome.Fragile X associated tremor/ataxia syndrome inclusions are formed in tissues outside of the central nervous system. Involvement of the testicles and the pituitary gland may lead to neuroendocrine

2007 Journal of Urology

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