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Fragile X-Associated Tremor-Ataxia Syndrome

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181. Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair (PubMed)

Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand breaks within

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2017 Genome Research

182. Age-related functional brain changes in FMR1 premutation carriers (PubMed)

Age-related functional brain changes in FMR1 premutation carriers The FMR1 premutation confers a 40-60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia, as well as cognitive decline that can develop into dementia in some patients. At present, it is not clear whether changes to brain function are detectable in motor regions prior (...) activation than controls during sequential versus random finger tapping (FWEcorr < 0.001). In addition, there was a significant age by group interaction in the hippocampus, inferior parietal cortex and temporal cortex originating from a more negative relationship between brain activation and age in the carrier group compared to the controls (FWEcorr < 0.001). Here, we present for the first time functional imaging-based evidence for early movement-related neurodegeneration in Fragile X premutation

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2017 NeuroImage : Clinical

183. NIPD on CFTC for Triplet Repeat Diseases

): University Hospital, Montpellier Study Details Study Description Go to Brief Summary: The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington's disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 (...) of gestation and her spouse) at risk of transmitting a triplet-repeat related genetic disease among Huntington disease, Myotonic Dystrophy type 1, Fragile X syndrome, Spinocerebellar Ataxia type 1, Spinocerebellar Ataxia type 2, Spinocerebellar Ataxia type 3 Genetic: Non invasive prenatal diagnosis Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood Outcome Measures Go to Primary Outcome Measures : Concordance rate between cell-based genetic non invasive

2017 Clinical Trials

184. Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases (PubMed)

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM (...) with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM.

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2017 Croatian medical journal

185. Altered expression of the FMR1 splicing variants landscape in premutation carriers (PubMed)

Altered expression of the FMR1 splicing variants landscape in premutation carriers FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. Approximately 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a number of clinical problems affecting premutation carriers throughout their life span. Marked elevation in FMR1 mRNA (...) levels have been observed with premutation alleles resulting in RNA toxicity, the leading molecular mechanism proposed for the FMR1 associated disorders observed in premutation carriers. The FMR1 gene undergoes alternative splicing and we have recently reported that the relative abundance of all FMR1 mRNA isoforms is significantly increased in premutation carriers. In this study, we characterized the transcriptional FMR1 isoforms distribution pattern in different tissues and identified a total of 49

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2017 Biochimica et biophysica acta

186. CTCF prevents genomic instability by promoting homologous recombination-directed DNA double-strand break repair (PubMed)

investigated. Here, we report that CTCF maintains genome stability, is recruited to sites of DNA damage, and promotes homologous recombination repair of DNA double-strand breaks (DSBs). CTCF depletion increased chromosomal instability, marked by chromosome breakage and end fusions, elevated genotoxic stress-induced genomic DNA fragmentation, and activated the ataxia telangiectasia mutated (ATM) kinase. We show that CTCF could be recruited to drug-induced 53BP1 foci and known fragile sites, as well as to I (...) -SceI endonuclease-induced DSBs. Laser irradiation analysis revealed that this recruitment depends on ATM, Nijmegen breakage syndrome (NBS), and the zinc finger DNA-binding domain of CTCF. We demonstrate that CTCF knockdown impaired homologous recombination (HR) repair of DSBs. Consistent with this, CTCF knockdown reduced the formation of γ-radiation-induced Rad51 foci, as well as the recruitment of Rad51 to laser-irradiated sites of DNA lesions and to I-SceI-induced DSBs. We further show that CTCF

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2017 Proceedings of the National Academy of Sciences of the United States of America

187. Detection of long repeat expansions from PCR-free whole-genome sequence data (PubMed)

samples were correctly classified as wild type by this method with the remaining three samples identified as possible expansions. We further applied our algorithm to a set of 152 samples in which every sample had one of eight different pathogenic repeat expansions, including those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and correctly flagged all but one of the known repeat expansions. Thus, ExpansionHunter can be used to accurately detect known pathogenic (...) Detection of long repeat expansions from PCR-free whole-genome sequence data Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step toward integrating WGS into precision medicine. We developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats

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2017 Genome Research

188. Briviact - brivaracetam

/2015 Page 4/121 HRQoL Health-Related Quality of Life HSS hypersensitivity syndrome i.v. intravenous IC 50 Half-maximal inhibitory concentration ICH International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use ILAE International League Against Epilepsy IPC In-process control IR Infrared ITT Intent-to-Treat KF Karl Fischer titration Ki inhibitory constant LDPE Low Density Polyethylene LEV levetiracetam LS least square LTFU long-term follow-up (...) volume of distribution XRPD X-Ray Powder Diffraction Assessment report EMA/CHMP/822086/2015 Page 6/121 1. Background information on the procedure 1.1. Submission of the dossier The applicant UCB Pharma SA submitted on 20 November 2014 an application for Marketing Authorisation to the European Medicines Agency (EMA) for Briviact, through the centralised procedure under Article 3 (2)(a) of Regulation (EC) No 726/2004. The eligibility to the centralised procedure was agreed upon by the EMA/CHMP on 21

2016 European Medicines Agency - EPARs

189. Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions

recommend that serious consideration be given to ordering fragile X studies in females with ASDs when prompted by clinical parameters such as (i) a phenotype compatible with fragile X; (ii) a family history posi- tive for X-linked neurodevelopmental disorders; or (iii) prema- ture ovarian insufficiency, ataxia, or tremors in close relatives. Mutations in MECP2 were originally reported as the pri- mary etiology of Rett syndrome. It was not long until a broad range of other phenotypes were described (...) of such conditions, there is adequate evidence to suggest testing for changes in these genes in patients with ASDs with no other identifiable etiology. These would include fragile X syndrome, methyl-CPG-binding protein 2 (MECP2) spec- trum disorders, and phosphatase and tensin homolog (PTEN)– related conditions. There is a long-standing association of ASDs with fragile X syndrome. Approximately 20% of boys with fragile X syndrome meet diagnostic criteria for ASDs when evaluated by objective criteria. 11,47 Two

2013 American College of Medical Genetics and Genomics

190. Technical report: ethical and policy issues in genetic testing and screening of children

training for all athletes—a policy that would minimize morbidity and mortal- ity without stigmatization. 70,71 Carriers of other conditions have also been found to be at risk of health conditions, for example, 20–30% of female carriers of Duchenne muscular dystrophy develop cardiomyopathies 72 and fragile X premutation carri- ers are at risk of primary ovarian insufficiency and fragile X tremorataxia syndrome. 73 As more knowledge is gained about genetics and genetic conditions, it may be discovered (...) a childhood-onset or adult- onset condition, a distinction not made in previous statements about the genetic testing of children. 75 It may involve testing an asymptomatic male infant with a positive family history for Duchenne muscular dystrophy or testing a child for a mutation associated with an adult-onset cancer syndrome. The former is an example of “predictive” testing: the presence of the mutation will almost certainly give rise to clinical manifestations. The lat- ter is an example

2013 American College of Medical Genetics and Genomics

191. Attention-Deficit Hyperactivity Disorder

. Confused and associated conditions. Diagnosis is complicated by overlapping symptoms or co- occurrence of other disorders (e.g., anxiety disorders, bipolar disorder, obstructive sleep apnea, fetal alcohol syndrome, major depressive disorders, learning disorders, oppositional defiant disorder, post traumatic stress disorder, reactive attachment disorder; see Appendices B1 & B2). Treatment (See Table 4) Drug treatment ? Stimulants are the first line treatment and have proven benefit to most people (...) ). ? School interventions: children with ADHD may qualify for a 504 education plan or special education services with individualized education plan (IEP) [ID] (see Appendices A3 & A4). Special Populations or Circumstances Special considerations apply to: 3-5 year olds, adolescents and adults, head-injured, intellectually disabled/autistic, fetal alcohol syndrome, and substance-abusing patients (see Appendix B3). Controversial Areas Common myths. Several common beliefs related to ADHD are untrue, e.g

2013 University of Michigan Health System

192. Management of Thyroid Cancer

Management of Thyroid Cancer CLINICAL ENDOCRINOLOGY VOLUME 81 SUPPLEMENT 1 JULY 2014 THE CLINICAL JOURNAL OF THE SOCIETY FOR ENDOCRINOLOGY AND THE ENDOCRINE SOCIETY OF AUSTRALIA British Thyroid Association Guidelines for the Management of Thyroid CancerGuidelines for the management of thyroid cancer Third edition British Thyroid Association July 2014 Perros P, Colley S, Boelaert K, Evans C, Evans RM, Gerrard GE, Gilbert JA, Harrison B, Johnson SJ, Giles TE, Moss L, Lewington V , Newbold KL (...) Cathy Sturgeon for her contribution on calcitonin, Dr Alan Dodd for his contribution in grading some of the evidence and the patient leaders who worked on the patient information lea? ets: Judith Tay- lor (British Thyroid Foundation), Kate Farnell (Butter? y Thyroid Cancer Trust), Liz Glenister (Hypopara UK), Jo Grey (Association for Multiple Endocrine Neoplasia Disorders – AMEND), Janis Hickey (British Thyroid Foundation) and Helen Hobrough (Thyroid Cancer Support Group – Wales). The authors also

2014 British Association of Endocrine and Thyroid Surgeons

193. Assessment and Management of Foot Ulcers for People with Diabetes, Second Edition

¦ V ibration perception (using a tuning fork) ¦ T actile sensation (using a cotton ball) ¦ Loss of protective sensation ¦ Sensory ataxia G ¦ Falls (15-fold increase compared to those without diabetes) ¦ Callus32 REGISTERED NURSES’ ASSOCIATION OF ONTARIO RECOMMENDATIONS Assessment and Management of Foot Ulcers for People with Diabetes, Second Edition COMPONENT ASSOCIATED PATHOPHySIOLOGICAL INVOLVEMENT ASSESSMENT CONSIDERATIONS CLINICAL INDICATIONS Autonomic Sympathetic Denervation ¦ Loss (...) made to ensure the accuracy of the contents at the time of publication, neither the authors nor the Registered Nurses’ Association of Ontario (RNAO) give any guarantee as to the accuracy of the information contained in them nor accept any liability, with respect to loss, damage, injury or expense arising from any such errors or omission in the contents of this work. Copyright With the exception of those portions of this document for which a specific prohibition or limitation against copying appears

2013 Registered Nurses' Association of Ontario

194. 2012 ACCF/AHA/HRS Focused Update Incorporated Into the ACCF/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities

1.2. Document Review and Approval e288 1.3. Methodology and Evidence e288 2. Indications for Pacing e290 2.1. Pacing for Bradycardia Due to Sinus and Atrioventricular Node Dysfunction e290 2.1.1. Sinus Node Dysfunction e290 2.1.2. Acquired Atrioventricular Block in Adults e291 2.1.3. Chronic Bifascicular Block e293 2.1.4. Pacing for Atrioventricular Block Associated With Acute Myocardial Infarction e294 2.1.5. Hypersensitive Carotid Sinus Syndrome and Neurocardiogenic Syncope e295 2.2. Pacing (...) . The frequent association of paroxysmal atrial fibrillation (AF) and sinus bradycardia or sinus bradyarrhythmias, which may oscillate suddenly from one to the other, usually accompanied by symptoms, is termed “tachy-brady syndrome.” SND is primarily a disease of the elderly and is presumed to be due to senescence of the sinus node and atrial muscle. Collected data from 28 different studies on atrial pacing for SND showed a median annual incidence of complete AV block of 0.6% (range 0% to 4.5%) with a total

2012 American Heart Association

195. Home Modifications in Aboriginal Housing

of substance abuse practice that is strongly associated with cognitive impairment is volatile substance use (VSU), which is reported to cause a wide range of impairments, from diminishing problem solving skills to severe dementia (Mildford et al., 2010). Cairney, Clough, Jaragba and Maruff (2007) suggest that in the case of chronic alcohol abuse that progressive cognitive decline may precede more serious and irreversible neurological syndromes. The early detection of cognitive impairment may therefore aid (...) functioning of the retina (Williams et al., 2004). This can lead to visual impairment and blindness, and thus may require home modifications to assist with navigation and effective interaction with the home environment. Peripheral arterial disease (PAD) – a painful artherosclerotic disease of the lower extremities that discourages walking and exacerbates poor circulation (American Diabetes Association, 2003). This can be related to necropathy (see below) and lower extremity sores in people with diabetes

2012 Home Modification Information Clearinghouse

196. β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles (PubMed)

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles Fragile X tremor ataxia syndrome (FXTAS) is a late-onset disorder manifesting in a proportion of FMR1 premutation individuals (PM: 55-199 CGG triplet expansions). FXTAS is associated with elevated levels of FMR1 mRNA which are toxic. In this study, relationships between neurocognitive and intra-step gait variability measures with mRNA levels (...) normalized to 2IC showed a strong correlation with gait variability measures (p < 0.007), working memory (p = 0.001) and verbal intelligence scores (p = 0.008). PM specific changes in GUS mRNA were not mediated by FMR1 mRNA. These results raise interest in the role of GUS in PM related disorders and emphasise the importance of using appropriate internal control genes, which have no significant association with PM phenotype, to normalize FMR1 mRNA levels.

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2016 Scientific reports

197. Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers (PubMed)

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder Fragile X-associated tremor ataxia syndrome (FXTAS). Limited efforts have been made to develop new methods for improved early patient monitoring, treatment response

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2016 Frontiers in molecular neuroscience

198. Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab (PubMed)

Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which are three different clinical (...) conditions with the same molecular background. They are all associated with an expansion of CGG repeats in the 5'UTR of FMR1 gene. Until 2016, the FMR1 gene was tested in 9185 individuals with the pre-screening PCR, supplemented with Southern blot analysis and/or Triplet Repeat Primed PCR based method. This approach allowed us to confirm the diagnosis of FXS, FXPOI FXTAS in 636/9131 (6.96%), 4/43 (9.3%) and 3/11 (27.3%) of the studied cases, respectively. Moreover, the FXS carrier status was established

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2016 Genes

199. Cerebellar mild iron accumulation in a subset of FMR1 premutation carriers with FXTAS (PubMed)

Cerebellar mild iron accumulation in a subset of FMR1 premutation carriers with FXTAS Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene. Iron is essential for many facets of cell metabolism in the brain but when altered is likely to contribute to the development of neurodegenerative diseases. We previously reported that iron accumulates in the choroid plexus and the putamen in FXTAS

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2016 Cerebellum (London, England)

200. Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders (PubMed)

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of polymerase chain reaction (PCR) and Southern blot (SB) for the fragile X mental retardation 1 (...) of unstable CGG expansion during mother-to-child transmission. In this review, we have summarized the correlation between several molecular elements, including CGG-repeat size, methylation, mosaicism and skewed X-chromosome inactivation, and the extent of clinical involvement in patients with FMR1-related disorders, and reviewed key developments in PCR-based methodologies for the molecular diagnosis of FXS, FXTAS and FXPOI, and large-scale (CGG)n expansion screening in newborns, women of reproductive age

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2016 Genes

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