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Fragile X-Associated Tremor-Ataxia Syndrome

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101. Ataxia with Identified Genetic and Biochemical Defects (Follow-up)

defects (eg, neuronal ceroid lipofuscinosis) Maternal inheritance - Mitochondrial cytopathies (eg, myoclonic epilepsy with ragged-red fiber disease [MERRF]) Other (unidentified mechanisms) Angelman syndrome Fragile X–related ataxia/tremor In summary, the authors suggest a system of classification based on clinical features as the first distinction, mode of inheritance as the second distinction, and pathogenetic mechanisms as the third distinction. Although far from an ideal system, it serves to bring (...) , coloboma, hepatic fibrosis) feature malformations in multiple organ systems. Inheritance patterns are usually autosomal recessive or X linked depending on the syndrome. In the case of Joubert syndrome, evidence for genetic heterogeneity exists. Currently, mutations in 9 different genes are known to be associated with a Joubert syndrome phenotype. Table 1. Nonprogressive Congenital Ataxias Disorder/Syndrome Phenotype* Inheritance NPCA with or without cerebellar hypoplasia Early hypotonia Delayed motor

2014 eMedicine.com

102. Ataxia with Identified Genetic and Biochemical Defects (Diagnosis)

defects (eg, neuronal ceroid lipofuscinosis) Maternal inheritance - Mitochondrial cytopathies (eg, myoclonic epilepsy with ragged-red fiber disease [MERRF]) Other (unidentified mechanisms) Angelman syndrome Fragile X–related ataxia/tremor In summary, the authors suggest a system of classification based on clinical features as the first distinction, mode of inheritance as the second distinction, and pathogenetic mechanisms as the third distinction. Although far from an ideal system, it serves to bring (...) , coloboma, hepatic fibrosis) feature malformations in multiple organ systems. Inheritance patterns are usually autosomal recessive or X linked depending on the syndrome. In the case of Joubert syndrome, evidence for genetic heterogeneity exists. Currently, mutations in 9 different genes are known to be associated with a Joubert syndrome phenotype. Table 1. Nonprogressive Congenital Ataxias Disorder/Syndrome Phenotype* Inheritance NPCA with or without cerebellar hypoplasia Early hypotonia Delayed motor

2014 eMedicine.com

103. Ataxia with Identified Genetic and Biochemical Defects (Treatment)

defects (eg, neuronal ceroid lipofuscinosis) Maternal inheritance - Mitochondrial cytopathies (eg, myoclonic epilepsy with ragged-red fiber disease [MERRF]) Other (unidentified mechanisms) Angelman syndrome Fragile X–related ataxia/tremor In summary, the authors suggest a system of classification based on clinical features as the first distinction, mode of inheritance as the second distinction, and pathogenetic mechanisms as the third distinction. Although far from an ideal system, it serves to bring (...) , coloboma, hepatic fibrosis) feature malformations in multiple organ systems. Inheritance patterns are usually autosomal recessive or X linked depending on the syndrome. In the case of Joubert syndrome, evidence for genetic heterogeneity exists. Currently, mutations in 9 different genes are known to be associated with a Joubert syndrome phenotype. Table 1. Nonprogressive Congenital Ataxias Disorder/Syndrome Phenotype* Inheritance NPCA with or without cerebellar hypoplasia Early hypotonia Delayed motor

2014 eMedicine.com

104. Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism Full Text available with Trip Pro

Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism Objective: To examine cognitive deficits and associated brain activity in fragile X-associated tremor/ataxia syndrome (FXTAS) patients with parkinsonism (FXTp+), in relation to FXTAS patients without parkinsonism (FXTp-), and normal elderly controls (NC). Methods: Retrospective reviews were performed in 65 FXTAS patients who participated in the event-related brain potential (ERP) study and also had either (...) a videotaped neurological examination or a neurological examination for extrapyramidal signs. Parkinsonism was defined as having bradykinesia with at least one of the following: rest tremor, postural instability, hypermyotonia, or rigidity. Eleven FXTp+ patients were identified and compared to 11 matched FXTp- and 11 NC. Main ERP measures included the N400 congruity effect, N400 repetition effect, and the late positive component (LPC) repetition effect. Results: When compared with FXTp- and NC, the FXTp

2018 Frontiers in genetics

105. Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Full Text available with Trip Pro

Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that affects carriers of the fragile X premutation, typically after age 50. Common symptoms include intention tremor, ataxia, neuropathy, autonomic dysfunction, cognitive decline, and dementia. The objectives of this study were to determine if patients with FXTAS have altered prepulse inhibition (PPI; a measure (...) of sensorimotor gating), and to study possible correlations between PPI, molecular status, and cognitive performance. A passive acoustic PPI paradigm was applied in 163 subjects; 121 carriers of the fragile X premutation, and 42 healthy controls. There were significant differences in PPI between premutation carriers with FXTAS and controls at PPI 60 ms, and at 120 ms. This effect was more prominent in the male FXTAS patients. There was a tendency to an impaired PPI in female premutation carriers at the 120 ms

2010 Neurobiology of Aging

106. Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Full Text available with Trip Pro

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Fragile X-associated tremor/ataxia syndrome, a neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the FMR1 gene, affects many carriers in late-life. Patients with fragile X-associated tremor/ataxia syndrome typically have cerebellar ataxia, intranuclear inclusions in neurons and astrocytes, as well as cognitive impairment. Dementia can also be present with cognitive deficits (...) that are as severe as in Alzheimer's disease, however frontosubcortical type impairment is more pronounced in fragile X-associated tremor/ataxia syndrome. We sought to characterize the P600 and N400 word repetition effects in patients with fragile X-associated tremor/ataxia syndrome, using an event-related potential word repetition paradigm with demonstrated sensitivity to very early Alzheimer's disease. We hypothesized that the fragile X-associated tremor/ataxia syndrome-affected participants with poor

2010 Brain

107. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Full Text available with Trip Pro

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Women with the fragile X mental retardation 1 (FMR1) premutation often have concerns about neurological and medical problems, as they become older and if their fathers experience fragile X-associated tremor/ataxia syndrome (FXTAS). We therefore determined the prevalence of these problems in 110 daughters of men with FXTAS [mean age of 44.8 years (SD 8.2)]. We compared them with 43 female controls (...) with normal FMR1 alleles [mean age of 43.8 years (SD 8.1)] and 36 premutation carrier daughters of parents with the premutation, but without FXTAS [mean age of 43.5 years (SD 7.7)]. Overall, daughters of men with FXTAS have a higher prevalence of neurological symptoms including tremor, balance problems, memory problems, and dizziness, menopausal symptoms, and psychiatric involvement including sleep problems and anxiety when compared with non-carrier female controls. Reported balance problems

2010 Clinical Genetics

108. Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases Full Text available with Trip Pro

. In this review, we highlight a number of recent studies that utilized the Drosophila model to study repeat-expansion associated diseases (READs), such as polyglutamine diseases, fragile X-associated tremor/ataxia syndrome (FXTAS), myotonic dystrophy type 1 (DM1) and type 2 (DM2), and C9ORF72-associated amyotrophic lateral sclerosis/frontotemporal dementia (C9-ALS/FTD). Discoveries regarding the possible mechanisms of RNA toxicity will be focused here. These studies demonstrate Drosophila as an excellent (...) Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases For nearly a century, the fruit fly, Drosophila melanogaster, has proven to be a valuable tool in our understanding of fundamental biological processes, and has empowered our discoveries, particularly in the field of neuroscience. In recent years, Drosophila has emerged as a model organism for human neurodegenerative and neuromuscular disorders

2017 Frontiers in cellular neuroscience

109. Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions Full Text available with Trip Pro

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal (...) dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions. A growing body of recent evidence revealed that the RNA structures formed by these mutant RNA repeat tracts exhibit toxic effects on cells. Therefore, in this review article, we

2017 Frontiers in cellular neuroscience

110. RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response Full Text available with Trip Pro

lateral sclerosis and frontotemporal dementia (C9RAN) and at CGG repeats that cause fragile X-associated tremor/ataxia syndrome. We find that C9RAN translation initiates through a cap- and eIF4A-dependent mechanism that utilizes a CUG start codon. C9RAN and CGG RAN are both selectively enhanced by integrated stress response (ISR) activation. ISR-enhanced RAN translation requires an eIF2α phosphorylation-dependent alteration in start codon fidelity. In parallel, both CGG and G4C2 repeats trigger (...) RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response Repeat-associated non-AUG (RAN) translation allows for unconventional initiation at disease-causing repeat expansions. As RAN translation contributes to pathogenesis in multiple neurodegenerative disorders, determining its mechanistic underpinnings may inform therapeutic development. Here we analyze RAN translation at G4C2 repeat expansions that cause C9orf72-associated amyotrophic

2017 Nature communications

111. Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats Full Text available with Trip Pro

Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in Fragile X premutation carriers. Previous studies found that Fragile X rCGG repeats are sufficient to cause neurodegeneration and that the rCGG repeat-binding proteins Pur α and hnRNP A2/B1 can modulate rCGG-mediated neuronal toxicity. To explore the role of Pur α in rCGG

2011 PLoS genetics

112. Diffusion tensor imaging in male premutation carriers of the fragile x mental retardation gene. Full Text available with Trip Pro

Diffusion 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 FMR1 (...) gene, has not been investigated. In this study, we used diffusion tensor imaging to study male premutation carriers with and without fragile X-associated tremor/ataxia syndrome and healthy sex-matched controls. We performed a tract of interest analysis for fractional anisotropy and axial and radial diffusivities of major white matter tracts in the cerebellar-brain stem and limbic systems. Compared with healthy controls, patients with fragile X-associated tremor/ataxia syndrome showed significant

2011 Movement Disorders

113. Improving Fragile X–Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine Full Text available with Trip Pro

Improving Fragile X–Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine 20841969 2011 08 08 2018 11 13 1533-712X 30 5 2010 Oct Journal of clinical psychopharmacology J Clin Psychopharmacol Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. 642-4 10.1097/JCP.0b013e3181f1d10a Ortigas Melina C MC Bourgeois James A JA Schneider Andrea A Olichney John J Nguyen Danh V DV Cogswell Jennifer B JB Hall Deborah A DA Hagerman Randi J RJ (...) administration & dosage Drug Therapy, Combination Female Follow-Up Studies Fragile X Mental Retardation Protein genetics Fragile X Syndrome complications drug therapy genetics Humans Memantine administration & dosage Tremor drug therapy etiology Venlafaxine Hydrochloride 2010 9 16 6 0 2010 9 16 6 0 2011 8 9 6 0 ppublish 20841969 10.1097/JCP.0b013e3181f1d10a 00004714-201010000-00033 PMC4022473 NIHMS577677 Brain. 2000 Sep;123 ( Pt 9):1948-63 10960058 Expert Opin Investig Drugs. 2000 Jun;9(6):1397-406 11060751

2010 Journal of Clinical Psychopharmacology

114. Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study Full Text available with Trip Pro

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric (...) disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country. After signing the written informed consent, we studied their electronic medical records in order to identify the disorders associated with the PM and their frequencies. We obtained clinical data in 188 PM carriers (147 women and 41 men). In women, the frequency of FXPOI

2016 Genes

115. CGG Repeat associated non-AUG translation utilizes a cap-dependent, scanning mechanism of initiation to produce toxic proteins Full Text available with Trip Pro

CGG Repeat associated non-AUG translation utilizes a cap-dependent, scanning mechanism of initiation to produce toxic proteins Repeat-associated non-AUG (RAN) translation produces toxic polypeptides from nucleotide repeat expansions in the absence of an AUG start codon and contributes to neurodegenerative disorders such as ALS and fragile X-associated tremor/ataxia syndrome. How RAN translation occurs is unknown. Here we define the critical sequence and initiation factors that mediate CGG (...) repeat RAN translation in the 5' leader of fragile X mRNA, FMR1. Our results reveal that CGG RAN translation is 30%-40% as efficient as AUG-initiated translation, is m(7)G cap and eIF4E dependent, requires the eIF4A helicase, and is strongly influenced by repeat length. However, it displays a dichotomous requirement for initiation site selection between reading frames, with initiation in the +1 frame, but not the +2 frame, occurring at near-cognate start codons upstream of the repeat. These data

2016 Molecular cell

116. Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome (Overview)

. 1997 Sep. 131(3):440-3. . Media Gallery Important products and enzymes in ornithine metabolism (see text for pathway detail). Enzymes and transporters are highlighted in italics. of 1 Tables Contributor Information and Disclosures Author Richard E Frye, MD, PhD Professor of Child Health, University of Arizona College of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Barrow Neurological Institute at Phoenix Children's Hospital (...) at presentation and long-term prognosis widely vary among affected individuals. Growth and developmental delays, learning disabilities (especially speech delay), and periodic confusion and ataxia are typical presenting symptoms. In this syndrome, a defect in the transport of ornithine into the mitochondrial matrix significantly inhibits the urea cycle, thereby impeding nitrogen disposal. Early detection and treatment may lead to favorable outcome. Next: Pathophysiology The urea cycle maintains

2014 eMedicine Pediatrics

117. Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome (Diagnosis)

. 1997 Sep. 131(3):440-3. . Media Gallery Important products and enzymes in ornithine metabolism (see text for pathway detail). Enzymes and transporters are highlighted in italics. of 1 Tables Contributor Information and Disclosures Author Richard E Frye, MD, PhD Professor of Child Health, University of Arizona College of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Barrow Neurological Institute at Phoenix Children's Hospital (...) at presentation and long-term prognosis widely vary among affected individuals. Growth and developmental delays, learning disabilities (especially speech delay), and periodic confusion and ataxia are typical presenting symptoms. In this syndrome, a defect in the transport of ornithine into the mitochondrial matrix significantly inhibits the urea cycle, thereby impeding nitrogen disposal. Early detection and treatment may lead to favorable outcome. Next: Pathophysiology The urea cycle maintains

2014 eMedicine Pediatrics

118. Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders Full Text available with Trip Pro

in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myotonic dystrophy type 1 (DM1), Fragile-X tremor ataxia syndrome (FXTAS), and C9ORF72 amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD). Copyright © 2014 Elsevier Ltd. All rights reserved. (...) Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders Microsatellite-expansion diseases are a class of neurological and neuromuscular disorders caused by the expansion of short stretches of repetitive DNA (e.g. GGGGCC, CAG, CTG …) within the human genome. Since their discovery 20 years ago, research into how microsatellites expansions cause disease has been examined using the model that these genes are expressed in one direction and that expansion

2014 Current opinion in genetics & development

119. Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. Full Text available with Trip Pro

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. Fragile X syndrome is the most common inherited form of mental retardation. It is caused by expansion of a trinucleotide (CGG)n repeat sequence in the 5' untranslated region of the FMR1 gene, resulting in promoter hypermethylation and suppression of FMR1 transcription. Additionally, pre-mutation alleles in carrier males and females may result in Fragile X tremor ataxia syndrome and primary (...) ovarian insufficiency, respectively. Fragile X is one of the most commonly requested molecular genetic tests worldwide. Quality assessment schemes have identified a wide disparity in allele sizing between laboratories. It is therefore important that clinical laboratories have access to characterized reference materials (RMs) to aid accurate allele sizing and diagnosis. With this in mind, a panel of genotyping RMs for Fragile X syndrome has been developed, which should be stable over many years

2010 European Journal of Human Genetics

120. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. (Abstract)

known to cause spinocerebellar ataxia type 2, has been identified as a major risk factor for sporadic ALS. Intermediate repeat expansions in the fragile X mental retardation 1 (FMR1) gene (55-200 repeats) are known to cause fragile X-associated premature ovarian insufficiency [(FX)POI; female carriers] or fragile X-associated tremor/ataxia syndrome (FXTAS; male carriers) by CGG-mediated RNA toxicity. The present investigation involves screening FMR1 repeat length in 742 sporadic ALS patients and 792 (...) CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Recently, repeat expansions in several genes have been shown to cause or be associated with amyotrophic lateral sclerosis (ALS). It has been demonstrated that an intronic hexanucleotide repeat expansion in C9ORF72 is a major cause of both familial (approximately 40%) and sporadic (approximately 5%) ALS, as well as frontotemporal dementia (FTD). In addition, a CAG-repeat expansion in exon 1 of ATXN2, otherwise

2012 Neurobiology of Aging

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