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Fragile X-Associated Tremor-Ataxia Syndrome

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161. Mouse Models of Fragile X-Associated Tremor Ataxia Full Text available with Trip Pro

Mouse Models of Fragile X-Associated Tremor Ataxia To describe the development of mouse models of fragile X-associated tremor/ataxia (FXTAS) and the behavioral, histological and molecular characteristics of these mice.This paper compares the pathophysiology and neuropsychological features of FXTAS in humans to the major mouse models of FXTAS. Specifically, the development of a transgenic mouse line carrying an expanded CGG trinucleotide repeat in the 5'-untranslated region (5'-UTR) of the Fmr1 (...) yet, including white matter disease, hyperintensities in T2-weighted magnetic resonance imaging, and brain atrophy, although these are currently under investigation in our laboratories.The available mouse model has provided valuable insights into the molecular biology and pathophysiology of FXTAS and will be particularly useful for developing and testing new therapeutic treatments in the future.

2009 Journal of investigative medicine : the official publication of the American Federation for Clinical Research

162. Progressive Spatial Processing Deficits in a Mouse Model of the Fragile X Premutation Full Text available with Trip Pro

Progressive Spatial Processing Deficits in a Mouse Model of the Fragile X Premutation Fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that is the result of a CGG trinucleotide repeat expansion in the range of 55-200 in the 5' UTR of the FMR1 gene. To better understand the progression of this disorder, a knock-in (CGG KI) mouse was developed by substituting the mouse CGG8 trinucleotide repeat with an expanded CGG98 repeat from human origin. It has been shown

2009 Behavioral neuroscience

163. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Full Text available with Trip Pro

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in the 55-200 range), in the FMR1 gene. The neurological changes are linked to the excessive FMR1 messenger RNA (mRNA), becoming toxic through a 'gain-of-function'. Because elevated levels of this mRNA are also found in carriers of the smaller expansion (grey zone) alleles, ranging (...) from 40 to 54 CGGs, we tested for a possible role of these alleles in the origin of movement disorders associated with tremor. We screened 228 Australian males affected with idiopathic Parkinson's disease and other causes of parkinsonism recruited from Victoria and Tasmania for premutation and grey zone alleles. The frequencies of either of these alleles were compared with the frequencies in a population-based sample of 578 Guthrie spots from consecutive Tasmanian male newborns (controls

2009 Clinical Genetics

164. The penetrance of marked cognitive impairment in older male carriers of the FMR1 Gene Premutation. (Abstract)

The penetrance of marked cognitive impairment in older male carriers of the FMR1 Gene Premutation. Male carriers of the FMR1 premutation are at risk of developing the fragile X-associated tremor/ataxia syndrome (FXTAS), a newly recognised and largely under-diagnosed late onset neurodegenerative disorder. Patients affected with FXTAS primarily present with cerebellar ataxia and intention tremor. Cognitive decline has also been associated with the premutation, but the lack of data on its (...) penetrance is a growing concern for clinicians who provide genetic counselling.The Mattis Dementia Rating Scale (MDRS) was administered in a double blind fashion to 74 men aged 50 years or more recruited from fragile X families (35 premutation carriers and 39 intrafamilial controls) regardless of their clinical manifestation. Based on previous publications, marked cognitive impairment was defined by a score

2009 Journal of Medical Genetics

165. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Full Text available with Trip Pro

-associated tremor/ataxia syndrome (FXTAS) occurs in one-third of all male premutation carriers older than 50 years. Besides POI and FXTAS, new disorders have recently been described among individuals (especially females) with the FMR1 premutation. Those pathologies include thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia. However there are few reports related to FXTAS penetrance among female premutation carriers or regarding these disorders recently associated to the FMR1 (...) Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that approximately 20% of female premutation carriers present primary ovarian insufficiency (POI) and that fragile X

2009 European Journal of Human Genetics

166. Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS). Full Text available with Trip Pro

Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS). Fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in some premutation carriers of the fragile X mental retardation 1 (FMR1) gene, is a neurodegenerative disorder characterized by action tremor, gait ataxia, and impaired executive cognitive functioning.To evaluate the nature and severity of functional limitations among male carriers of the fragile X premutation, both (...) significantly worse than control subjects on all dependent measures, showing greater limitations in physical functioning, as well as ADL and IADL performance (p < 0.05). Subsequent analyses suggested that physical and functional impairments among men with FXTAS result largely from deficits in motor and executive functioning and that CGG repeat length is associated with functional impairment. Asymptomatic carriers of the fragile X premutation performed similarly to control subjects on all measures.This study

2009 International Journal of Geriatric Psychiatry

167. Screening for the presence of FMR1 premutation alleles in women with parkinsonism. Full Text available with Trip Pro

Screening for the presence of FMR1 premutation alleles in women with parkinsonism. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive, late-onset neurodegenerative disease that affects older carriers of premutation (CGG) repeat expansions of the fragile X mental retardation 1 (FMR1) gene. Clinical features include intention tremor, gait ataxia, memory loss, peripheral neuropathy, autonomic dysfunction, and parkinsonism. The presence of parkinsonism in FXTAS raises (...) of 595 [0.34%]) is not significantly different from estimates of the allele frequency among women in the general population (0.4%-0.8%). Clinical and radiologic features of these 2 patients were similar to those of the general Parkinson disease population; however, 1 patient (115 CGG repeats) had a family history of 2 sons with the fragile X syndrome.Screening of women within the parkinsonism clinical spectrum is unlikely to be productive in the absence of additional medical or family history

2009 Archives of Neurology

168. Advances in the Treatment of Fragile X Syndrome. Full Text available with Trip Pro

Advances in the Treatment of Fragile X Syndrome. The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers. Therefore, multigenerational family involvement (...) is commonly encountered when a proband is identified with a FMR1 mutation. Studies of metabotropic glutamate receptor 5 pathway antagonists in animal models of fragile X syndrome have demonstrated benefits in reducing seizures, improving behavior, and enhancing cognition. Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here.

2009 Pediatrics

169. Multiple system atrophy

diagnosis of MSA-p includes Parkinson's disease and other atypical parkinsonian disorders (progressive supranuclear palsy, corticobasal syndrome). Differential diagnosis of MSA-c includes dominantly inherited spinocerebellar ataxias (SCAs 1, 2, 3, 6, and 7), fragile X-associated tremor/ataxia syndrome (FXTAS) and mitochondriopathies ( POLG1 gene mutations). Genetic counseling MSA occurs sporadically. However, some familial cases have been described. Management and treatment Therapy mainly targets (...) 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: * Multiple system atrophy Disease definition Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs

2005 Orphanet

170. Elevated FMR1 mRNA in premutation carriers is due to increased transcription Full Text available with Trip Pro

-associated tremor/ataxia syndrome (FXTAS). Although evidence to date suggests that the elevated mRNA is not due to increased stability, the basis for the increase is not known. In the current study, we have determined the relative transcriptional activities of premutation and normal FMR1 alleles using a highly sensitive nuclear run-on assay that involves immunocapture of digoxigenin-modified run-on transcripts followed by PCR amplification of the nascent transcripts. Using the nuclear run-on approach, we (...) Elevated FMR1 mRNA in premutation carriers is due to increased transcription Carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene have levels of FMR1 mRNA that are elevated by as much as 10-fold in peripheral blood leukocytes and CNS tissue. The excess expanded-repeat mRNA, per se, is now believed to result in forms of clinical involvement that are largely restricted to premutation carriers, including the neurodegenerative disorder, fragile X

2007 RNA

171. FXTAS: a bad RNA and a hope for a cure Full Text available with Trip Pro

FXTAS: a bad RNA and a hope for a cure Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly identified neurodegenerative disorder due to intermediate expansion of trinucleotide CGG repeats (55 - 200 repeats) in the 5' untranslated region (UTR) of the Fragile X mental retardation 1 (FMR1) gene. FXTAS is now considered to be one of the most common inherited neurodegenerative disorders in males.To examine the future of potential therapies for this late-onset disease.Examination

2008 Expert Opinion on Biological Therapy

172. Detection of Early FXTAS Motor Symptoms Using the CATSYS Computerized Neuromotor Test Battery. Full Text available with Trip Pro

Detection of Early FXTAS Motor Symptoms Using the CATSYS Computerized Neuromotor Test Battery. Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is distinct from fragile X syndrome (FXS) in its molecular aetiology and clinical presentation. The primary features of FXTAS are late-onset intention tremor and gait ataxia. Associated features include

2008 Journal of Medical Genetics

173. 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

174. A low-symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. (Abstract)

A low-symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. Fragile X-associated tremor/ataxia (FXTAS) is a late onset disorder caused by a premutation in the FMR1 gene, in which neurological symptoms are associated with white matter (wm) changes, especially within the middle cerebellar peduncles (MCP sign), seen on magnetic resonance images (MRIs). We report a discrepancy between obvious radiological presentations

2007 Journal of Medical Genetics

175. Screen for expanded FMR1 alleles in patients with essential tremor. (Abstract)

Screen for expanded FMR1 alleles in patients with essential tremor. Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, was described recently among male carriers of expanded alleles (55-200 CGG repeats; premutation range) of the fragile X mental retardation 1 (FMR1) gene. Major features of the syndrome include intention tremor, gait ataxia, and parkinsonism in men over 50 years of age. This disorder is believed to be relatively common, possibly affecting 1 (...) patients with ET. Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles.Copyright 2004 Movement Disorder Society

2004 Movement Disorders

176. Parkinsonism, FXTAS, and FMR1 premutations. (Abstract)

Parkinsonism, FXTAS, and FMR1 premutations. The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically (...) diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.Copyright 2004 Movement Disorder Society.

2005 Movement Disorders

177. Progression of tremor and ataxia in male carriers of the FMR1 premutation. (Abstract)

Progression of tremor and ataxia in male carriers of the FMR1 premutation. Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. The natural history of FXTAS is largely unknown. To address this issue, a family-based, retrospective, longitudinal study was conducted (...) with a cohort of 55 male premutation carriers. Analysis of the progression of the major motor signs of FXTAS, tremor and ataxia, shows that tremor usually occurs first, with median onset at approximately 60 years of age. From the onset of the initial motor sign, median delay of onset of ataxia was 2 years; onset of falls, 6 years; dependence on a walking aid, 15 years; and death, 21 years. Preliminary data on life expectancy are variable, with a range from 5 to 25 years.(c) 2006 Movement Disorder Society.

2007 Movement Disorders

178. Protein composition of the intranuclear inclusions of FXTAS. Full Text available with Trip Pro

Protein composition of the intranuclear inclusions of FXTAS. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by premutation expansions (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. The pathologic hallmark of FXTAS is the ubiquitin-positive intranuclear inclusion found in neurons and astrocytes in broad distribution throughout the brain. The pathogenesis of FXTAS is likely to involve an RNA toxic gain-of-function

2006 Brain

179. Screen for excess FMR1 premutation alleles among males with parkinsonism. Full Text available with Trip Pro

Screen for excess FMR1 premutation alleles among males with parkinsonism. Individuals with fragile X-associated tremor/ataxia syndrome frequently have associated features of parkinsonism, often leading to an initial diagnosis of Parkinson disease or other parkinsonism spectrum disorders. Parkinson disease populations may thus include individuals who harbor premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.To screen DNA samples (male) from an Italian (...) Parkinson disease clinic for an excess of premutation expansions of the FMR1 gene.DNA samples obtained from 903 unrelated males through consecutive clinic visits were analyzed by an enhanced polymerase chain reaction method for detecting expanded CGG repeats.Diagnostic assessments were performed at the Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. Genotyping was conducted at the University of California Davis School of Medicine.A cohort of unrelated males with clinical features

2007 Archives of Neurology

180. Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Full Text available with Trip Pro

Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms.To present a case with evidence of both MS and FXTAS and to discuss the relationship of both disorders.Case report.Fragile X Research and Treatment Center at the University of California, Davis, Medical Center. Patient Woman with the FMR1 premutation who died of MS (...) at the age of 52 years.Magnetic resonance imaging, physical examination, and neuropathologic examination results.Magnetic resonance imaging, physical examination, and autopsy neuropathologic examination revealed diagnostic features of MS and FXTAS.The molecular mechanism of RNA toxicity, including the elevation of alphaB-crystallin levels observed in FXTAS, may lead to enhanced predisposition to autoimmune diseases.

2008 Archives of Neurology

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