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Fragile X-Associated Tremor-Ataxia Syndrome

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1. Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome? Full Text available with Trip Pro

Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome? Fragile X premutation carriers are at increased risk for fragile X-associated tremor ataxia syndrome (FXTAS), but to date we know little about prediction of onset and rate of progression and even less about treatment of this neurodegenerative disease. Thus, the longitudinal study of carriers, and the identification of potential biomarkers and prodromal states (...) , is essential. Here we present results of baseline assessments from an ongoing longitudinal project.The cohort consisted of 73 men, 48 with the fragile X mental retardation 1 (FMR1) premutation (55-200 cytosine-cytosine-guanine or CGG repeats) and 25 well-matched controls (< 40 repeats) aged between 40 and 75 years. At enrollment, none met criteria for FXTAS or had any clinically significant tremor or ataxia by blinded neurological examination. The battery consisted of measures of visual memory, spatial

2018 Movement Disorders

2. ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome Full Text available with Trip Pro

ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome To explore the association of a splice variant of the antisense fragile X mental retardation 1 (ASFMR1) gene, loss of fragile X mental retardation 1 (FMR1) AGG interspersions and FMR1 CGG repeat size with manifestation, and severity of clinical symptoms of fragile X-associated tremor/ataxia syndrome (FXTAS).Premutation carriers (PMCs) with FXTAS, without FXTAS, and normal controls (NCs) had a neurologic evaluation

2018 Neurology: Genetics

3. Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future Full Text available with Trip Pro

Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future 29951081 2018 11 14 1664-8021 9 2018 Frontiers in genetics Front Genet Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future. 100 10.3389/fgene.2018.00100 Hall Deborah A DA Department of Neurological Sciences, Rush Medical Center, Chicago, IL, United States. Hagerman Randi J RJ MIND Institute, University of California, Davis, Sacramento, CA, United States. eng Journal Article 2018 06

2018 Frontiers in genetics

4. Making a Difference—Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Full Text available with Trip Pro

Making a Difference—Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Fragile X Tremor Ataxia Syndrome (FXTAS) is a syndrome based on expansion of the repeats of CGG triplets. The symptoms include action tremor and cerebellar gait ataxia. Additionally symptomatology of FXTAS may be associated to parkinsonism, executive function deficits, dementia, neuropathy and dysautonomia. We present a case of a patient

2018 Frontiers in neurology

5. Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics Full Text available with Trip Pro

Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation CGG repeat expansion (55-200 repeats) within the 5' UTR of the fragile X gene (FMR1). FXTAS is characterized by intension tremor, cerebellar ataxia, progressive neurodegeneration, parkinsonism and cognitive decline. The development of transgenic mouse and Drosophila melanogaster models (...) carrying an expanded CGG repeat has yielded valuable insight into the pathophysiology of FXTAS. To date, we know of two main molecular mechanisms of this disorder: (1) a toxic gain of function of the expanded CGG-repeat FMR1 mRNA, which results in the binding/sequestration of the CGG-binding proteins; and (2) CGG repeat-associated non-AUG-initiated (RAN) translation, which generates a polyglycine peptide toxic to cells. Besides these CGG-mediated mechanisms, recent studies have shed light on additional

2017 Frontiers in cellular neuroscience

6. Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? Full Text available with Trip Pro

Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? 28884425 2019 01 24 1878-7479 14 4 2017 10 Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics Neurotherapeutics Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? 1070-1072 10.1007/s13311-017-0569-0 Budimirovic Dejan B DB Departments of Psychiatry and Behavioral Sciences, Kennedy Krieger Institute and Child Psychiatry, The Johns Hopkins Medical Institutions (...) , Johns Hopkins University School of Medicine, Baltimore, MD, USA. dbudimi1@jhu.edu. eng Editorial United States Neurotherapeutics 101290381 1878-7479 2017 9 9 6 0 2017 9 9 6 0 2017 9 9 6 0 ppublish 28884425 10.1007/s13311-017-0569-0 10.1007/s13311-017-0569-0 PMC5722773 Behav Brain Res. 1999 Dec;106(1-2):119-25 10595427 J Neurodev Disord. 2017 Jun 12;9:14 28616097 Cerebellum. 2016 Oct;15(5):546-51 27108270 JAMA Neurol. 2013 Aug;70(8):1022-9 23753897 Mov Disord. 2007 Oct 31;22(14):2018-30, quiz 2140

2017 Neurotherapeutics

7. Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome Full Text available with Trip Pro

Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 premutation over the age of 50 years. Currently, no effective treatment is available. We performed an open-label intervention study to assess whether allopregnanolone, a neurosteroid promoting regeneration and repair, can improve (...) clinical symptoms, brain activity, and magnetic resonance imaging (MRI) measurements in patients with FXTAS. Six patients underwent weekly intravenous infusions of allopregnanolone (2-6 mg over 30 min) for 12 weeks. All patients completed baseline and follow-up studies, though MRI scans were not collected from 1 patient because of MRI contraindications. The MRI scans from previous visits, along with scans from 8 age-matched male controls, were also included to establish patients' baseline condition

2017 Neurotherapeutics

8. Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome Full Text available with Trip Pro

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether intranuclear inclusions containing DNA damage response (DDR) proteins are causally linked to abnormal

2017 Human molecular genetics

9. Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome Full Text available with Trip Pro

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1 gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that manifests with action tremor, gait ataxia and cognitive impairments. In this study, we used a bigenic mouse model

2017 Human molecular genetics

10. Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome. Full Text available with Trip Pro

Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome. Fragile X-associated tremor/ataxia syndrome is an adult-onset disorder associated with premutation alleles of the FMR1 gene. This disorder is characterized by progressive action tremor, gait ataxia, and cognitive decline. Fragile X-associated tremor/ataxia syndrome pathology includes dystrophic white matter and intranuclear inclusions in neurons and astrocytes. We previously demonstrated (...) that the transport of iron into the brain is altered in fragile X-associated tremor/ataxia syndrome; therefore, we also expect an alteration of iron metabolism in brain areas related to motor control. Iron is essential for cell metabolism, but uncomplexed iron leads to oxidative stress and contributes to the development of neurodegenerative diseases. We investigated a potential iron modification in the putamen - a structure that participates in motor learning and performance - in fragile X-associated tremor

2017 Movement Disorders

11. Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome Full Text available with Trip Pro

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild brain atrophy. The cause of FXTAS is a premutation expansion, of 55 to 200 CGG repeats localized within the 5'UTR of FMR1. These repeats are transcribed in the sense and antisense directions (...) into mutants RNAs, which have increased expression in FXTAS. Furthermore, CGG sense and CCG antisense expanded repeats are translated into novel proteins despite their localization in putatively non-coding regions of the transcript. Here we focus on two proposed disease mechanisms for FXTAS: 1) RNA gain-of-function, whereby the mutant RNAs bind specific proteins and preclude their normal functions, and 2) repeat-associated non-AUG (RAN) translation, whereby translation through the CGG or CCG repeats leads

2018 Brain research

12. Fragile X-Associated Tremor-Ataxia Syndrome

on the term "Fragile X-Associated Tremor-Ataxia Syndrome." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Ontology: FRAGILE X TREMOR/ATAXIA SYNDROME (C1839780) Concepts Disease or Syndrome ( T047 ) MSH , SnomedCT 448045004 English FXTAS , FRAGILE X TREMOR/ATAXIA SYNDROME , Fragile X associated tremor ataxia syndrome (disorder) , Fragile X associated tremor ataxia syndrome , Fragile X Tremor Ataxia Syndrome , Fragile X-Associated (...) Fragile X-Associated Tremor-Ataxia Syndrome Fragile X-Associated Tremor-Ataxia Syndrome Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration

2018 FP Notebook

13. The Corpus Callosum Splenium Sign in Fragile X‐Associated Tremor Ataxia Syndrome Full Text available with Trip Pro

The Corpus Callosum Splenium Sign in Fragile X‐Associated Tremor Ataxia Syndrome Hyperintensities in the splenium of the corpus callosum (CCS) have been proposed as a radiographic diagnostic criterion for fragile X-associated tremor ataxia syndrome (FXTAS).Magnetic resonance images from patients with FXTAS and from nonpremutation carriers with movement disorders were viewed by a radiologist who was blinded to gene status, and radiographic criteria for FXTAS were scored. Phenotypic data used (...) (0.6 vs. 0.8) and women (0.5 vs. 1).The CCS sign is common in patients with FXTAS, but it is not significantly more prevalent in women with FXTAS compared with controls. This may be due to small sample sizes in the current study. Other signs, such as brainstem white matter disease, were more common in women with FXTAS and differed from those in men with FXTAS. This finding suggests that additional studies evaluating the diagnostic criteria for FXTAS need to be conducted, ideally

2016 Movement disorders clinical practice

14. Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome Full Text available with Trip Pro

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice

2017 Neuron

15. FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME: ANOTHER PHENOTYPE OF THE FRAGILE X GENE Full Text available with Trip Pro

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME: ANOTHER PHENOTYPE OF THE FRAGILE X GENE Neuropsychologists have an important role in evaluating patients with fragile X-associated disorders, but most practitioners are unaware of the recently identified neurodegenerative movement disorder known as fragile X-associated tremor ataxia syndrome (FXTAS). The objective of this editorial is to orient the reader to FXTAS and highlight the importance of clinical neuropsychology in describing the fragile X (...) ), and a research paper on executive functioning and psychopathology (Grigsby).The issue highlights the importance of awareness of fragile X-associated disorders for neuropsychologists, an awareness that must reach beyond neurodevelopmental aspects related to fragile X syndrome into the realm of neurodegenerative disease and aging.

2016 The Clinical neuropsychologist

16. Altered bioenergetics in primary dermal fibroblasts from adult carriers of the FMR1 premutation before the onset of the neurodegenerative disease Fragile X-associated tremor/ataxia syndrome Full Text available with Trip Pro

Altered bioenergetics in primary dermal fibroblasts from adult carriers of the FMR1 premutation before the onset of the neurodegenerative disease Fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder, characterized by tremors, ataxia, impaired coordination, and cognitive decline. While all FXTAS individuals are carriers of a 55-200 CGG expansion at the 5'-UTR of the fragile X mental retardation gene (FMR1 (...) ), also known as premutation, not all carriers develop FXTAS symptoms and some display other types of psychological/emotional disorders (e.g., autism, anxiety). The goal of this study was to investigate whether the mitochondrial dysfunction previously observed in fibroblasts from older premutation individuals (>60 years) was already present in younger (17-48 years), non-FXTAS-affected carriers and to identify the type and severity of the bioenergetic deficit. Since FXTAS affects mostly males, while

2016 Cerebellum (London, England)

17. Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. Full Text available with Trip Pro

Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. Progressive cognitive deficits are common in patients with fragile X-associated tremor/ataxia syndrome (FXTAS), with no targeted treatment yet established. In this substudy of the first randomized controlled trial for FXTAS, we examined the effects of NMDA antagonist memantine on attention and working memory. Data were analyzed for patients (...) of target engagement of memantine, as well as therapeutically relevant information that could further the development of specific cognitive or disease-modifying therapies for FXTAS.

2016 Scientific reports Controlled trial quality: uncertain

18. Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome Full Text available with Trip Pro

Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease with motor, psychiatric, and cognitive manifestations that occurs in carriers of the fragile X mental retardation 1 ( FMR1) gene premutations. This was a retrospective chart review of 196 individuals (127 men and 69 women) with FXTAS. Forty-six (23%) participants were cognitively impaired, of whom 19 (10%) had dementia

2016 Journal of Geriatric Psychiatry and Neurology

19. Small Molecule Recognition and Tools to Study Modulation of r(CGG)exp in Fragile X-Associated Tremor Ataxia Syndrome Full Text available with Trip Pro

Small Molecule Recognition and Tools to Study Modulation of r(CGG)exp in Fragile X-Associated Tremor Ataxia Syndrome RNA transcripts containing expanded nucleotide repeats cause many incurable diseases via various mechanisms. One such disorder, fragile X-associated tremor ataxia syndrome (FXTAS), is caused by a noncoding r(CGG) repeat expansion (r(CGG)(exp)) that (i) sequesters proteins involved in RNA metabolism in nuclear foci, causing dysregulation of alternative pre-mRNA splicing, and (ii

2016 ACS chemical biology

20. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice Full Text available with Trip Pro

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some carriers of the fragile X premutation (PM). In PM carriers, there is a moderate expansion of a CGG trinucleotide sequence (55-200 repeats) in the fragile X gene (FMR1) leading to increased FMR1 mRNA and small to moderate decreases in the fragile X mental retardation protein (FMRP) expression (...) . The key symptoms of FXTAS include cerebellar gait ataxia, kinetic tremor, sensorimotor deficits, neuropsychiatric changes, and dementia. While the specific trigger(s) that causes PM carriers to progress to FXTAS pathogenesis remains elusive, the use of animal models has shed light on the underlying neurobiology of the altered pathways involved in disease development. In this review, we examine the current use of mouse models to study PM and FXTAS, focusing on recent advances in the field. Specifically

2016 Cerebellum (London, England)

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