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Fragile X-Associated Tremor-Ataxia Syndrome

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221. Proteostasis and RNA Binding Proteins in Synaptic Plasticity and in the Pathogenesis of Neuropsychiatric Disorders (PubMed)

synaptic factors produce pathologies. As such, mutations in components of the proteasomal or translational machinery, including RBPs, have been linked to the pathogenesis of neurological disorders such as Fragile X Syndrome (FXS), Fragile X Tremor Ataxia Syndrome (FXTAS), and Autism Spectrum Disorders (ASD). In this review, we summarize recent scientific findings, highlight ongoing questions, and link basic molecular mechanisms to the pathogenesis of common neuropsychiatric disorders.

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2016 Neural plasticity

222. RAN translation—what makes it run? (PubMed)

what we currently know and do not know about repeat associated non-AUG (RAN) translation in the context of established canonical and non-canonical mechanisms of translation initiation. We highlight recent findings related to RAN translation in three repeat expansion disorders: CGG repeats in fragile X-associated tremor ataxia syndrome (FXTAS), GGGGCC repeats in C9orf72 associated amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and CAG repeats in Huntington disease

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2016 Brain research

223. Autism

- Revised with follow-up ( -R/F) Two staged parent reported screening tool Pervasive s Screening (PDDST) Publisher: Porter Psychiatric Institute Phone: 415-476-7385 Autism Screening Questionnaire Australian Scale for Asperger Syndrome Formal diagnostic testing Autism Diagnostic Observation Schedule, 2nd ed DSM V Criteria (see below) XII. Differential Diagnosis: Autism Other Pervasive (see above) Selective Mutism Stereotypic Childhood onset XIII. Labs (if indicated) Fragile X Testing Lead Level Urine (...) , and sleep disturbances. Definition (CSP) progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia. Definition (MSH) An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive

2018 FP Notebook

224. Brain Network Activation and Gait and Posture in FXTAS

correlations will be studied between these BNA scores and demographics (gender, age and disease duration) as well as genetic mutation and clinical scores. Condition or disease Fragile X Associated Tremor-ataxia Syndrome FXTAS Detailed Description: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive, late-onset (>50 years) multisystem neurodegenerative disorder, associated with an expansion in the 5ʹuntranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55 (...) : Layout table for MeSH terms Ataxia Fragile X Syndrome Tremor Dyskinesias Neurologic Manifestations Nervous System Diseases Signs and Symptoms Mental Retardation, X-Linked Intellectual Disability Neurobehavioral Manifestations Sex Chromosome Disorders Chromosome Disorders Congenital Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System

2016 Clinical Trials

225. Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity. (PubMed)

overexpressed, Pur-alpha mitigates toxicities associated with Fragile X tumor ataxia syndrome (FXTAS) and C9orf72 repeat expansion diseases in Drosophila and mammalian cell culture models. However, the function of Pur-alpha in regulating ALS pathogenesis has not been fully understood. We identified Pur-alpha as a novel component of cytoplasmic stress granules (SGs) in ALS patient cells carrying disease-causing mutations in FUS. When cells were challenged with stress, we observed that Pur-alpha co-localized (...) associated with mutant FUS expression in primary motor neurons. Our data emphasizes the importance of stress granules in ALS pathogenesis and identifies Pur-alpha as a novel regulator of SG dynamics.

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2016 Acta neuropathologica

226. Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene (PubMed)

and the subsequent silencing of the gene, associated with Fragile X Syndrome (FXS). Finally, FMR1 intermediate (45-54 CGG) and premutation (55-200 CGG) alleles have been principally associated with two phenotypes, fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI). (...) Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X

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2016 Genes

227. Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes (PubMed)

Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes Fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS) are neurodegenerative disorders caused by the pathogenic expansion of CGG triplet repeats in the FMR1 gene. FXTAS is likely to be caused by a 'toxic' gain-of-function of the FMR1 mRNA. We provide evidence for the existence of a novel quadruplex architecture (...) comprising CGG repeats. The 8-bromoguanosine ((Br)G)-modified molecule GC(Br)GGCGGC forms a duplex in solution and self-associates via the major groove to form a four-stranded, antiparallel (GC(Br)GGCGGC)4 RNA quadruplex with (Br)G3:G6:(Br)G3:G6 tetrads sandwiched between mixed G:C:G:C tetrads. Self-association of Watson-Crick duplexes to form a four-stranded structure has previously been predicted; however, no experimental evidence was provided. This novel four-stranded RNA structure was characterized

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2016 Nucleic acids research

228. Robust Machine Learning-Based Correction on Automatic Segmentation of the Cerebellum and Brainstem (PubMed)

definition. We further assessed the robustness of the method in handling size of training set, differences in head coil usage, and amount of brain atrophy. High resolution T1-weighted images were acquired from 30 healthy controls scanned with either an 8-channel or 32-channel head coil. Ten patients, who suffered from brain atrophy because of fragile X-associated tremor/ataxia syndrome, were scanned using the 32-channel head coil. The initial segmentations of the cerebellum and brainstem were generated

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2016 PloS one

229. Warburg effect linked to cognitive-executive deficits in FMR1 premutation (PubMed)

Warburg effect linked to cognitive-executive deficits in FMR1 premutation A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency, and neurobehavioral impairments. Based on the mitochondrial dysfunction observed in fibroblasts and brain samples from carriers, as well as in neurons (...) increased glycolysis despite aerobic conditions. Differential proteomics extended these findings, unveiling a decreased antioxidant response, translation, and disrupted extracellular matrix and cytoskeleton organization with activation of prosenescence pathways. Lower bioenergetics segregated with increased incidence of low executive function, tremors, below-average IQ, and FXTAS. The combination of functional and proteomic data unveiled new mechanisms related to energy production in the premutation

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2016 The FASEB Journal

230. Zydelig - idelalisib

Investigational New Drug (Application) iNHL indolent non-Hodgkin lymphoma IRC independent review committee ITT intent-to-treat KM Kaplan-Meier LDH lactate dehydrogenase LPL lymphoplasmacytic lymphoma m module mAb monoclonal antibody MALT mucosa-associated lymphoid tissue MCL mantle cell lymphoma MedDRA Medical Dictionary for Regulatory Activities MID minimally important difference MM multiple myeloma MR minor response MRI magnetic resonance imaging MST medical search term MZL marginal zone lymphoma N or n (...) spectroscopy, ultraviolet absorption (UV) and x-ray diffraction. The molecular formula is confirmed by elemental analysis. Manufacture, characterisation and process controls The active substance is synthesised in five steps using commercially available and well defined starting materials. The final active substance is purified by crystallisation. According to the synthetic process described the active substance is consistently obtained as the S-enantiomer. The manufacturing development of the active

2014 European Medicines Agency - EPARs

231. CPG on the comprehensive care of people with Alzheimer's Disease and other Dementias

, with the participation of the scienti? c associations involved, CPGs, such as this one have addressed the comprehensive care of people with Alzheimer’s disease and other demen- tias, which is presented today. Dementia as a clinical syndrome is characterised by an acquired impairment affecting more than one cognitive domain, which represents a decline from a previous level that is serious enough so as to affect personal and social functioning. Given the increase in life expectancy and progressive population ageing (...) , dementia with Lewy bodies and frontotemporal lobar degeneration. Important research studies are being carried out all over the world to study the different aspects that make up the clinical syndrome of dementia, as well as its multiple affectations and effects, so we must be attentive to potential advances in clinical care, genetics, diagnosis tech- niques, as well as new drugs or other non-pharmacological interventions. This CPG has been reviewed by Spanish experts in the care of patients

2010 GuiaSalud

232. Next Generation Sequencing Diagnostics

encephalitis) Liquor (inflammation, meningitis) Electroencephalography (EEG) (Status) Exclusion chromosome 9 open reading frame 72 (C9orf72) For patients <18 years Patients with (penetrating) suspected cerebral neurogenetic diseases Unclear movement disorder (spasticity, ataxia, dyskinesia) Unclear cognitive disorder with probability of monogenic origin Fragile X Syndrome (Fra-X) at mentally retarded boy, Friedreich ataxia (FRDA) with ataxia should be genetically excluded Exclusion Criteria: For patients (...) Next Generation Sequencing Diagnostics Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Next Generation Sequencing

2015 Clinical Trials

233. Middle cerebellar peduncles: Magnetic resonance imaging and pathophysiologic correlate (PubMed)

of MCP. Pathologies such as demyelinating disorders or certain neurodegenerative entities (e.g., multiple system atrophy or fragile X-associated tremor-ataxia syndrome) appear to have predilection for MCP. Careful evaluation of concomitant imaging findings in the brain or brainstem; and focused correlation with key clinical findings such as immunosuppression for progressive multifocal leukoencephalopahty; hypertension, post-transplant status or high dose chemotherapy for posterior reversible

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2015 World journal of radiology

234. Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells (PubMed)

-associated tremor/ataxia syndrome, myotonic dystrophy type 1 and myotonic dystrophy type 2, Friedreich ataxia and C9 related amyotrophic lateral sclerosis and/or frontotemporal dementia, Facioscapulohumeral Muscular Dystrophy and potentially more. Common features that are typical to this subclass of conditions are RNA toxic gain-of-function, epigenetic loss-of-function, toxic repeat-associated non-ATG translation and somatic instability. For each mechanism we summarize the currently available stem cell (...) . Pathologic unstable repeat expansions can be classified according to their length, repeat sequence, gene location and underlying pathologic mechanisms. This review summarizes the current contribution of mutant pluripotent stem cells (diseased human embryonic stem cells and patient-derived induced pluripotent stem cells) to the research of unstable repeat pathologies by focusing on particularly large unstable noncoding expansions. Among this class of disorders are Fragile X syndrome and Fragile X

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2015 World journal of stem cells

235. White matter disease and cognitive impairment in FMR1 premutation carriers. (PubMed)

White matter disease and cognitive impairment in FMR1 premutation carriers. This cross-sectional, observational study examined the role of white matter involvement in the cognitive impairment of individuals with the fragile X mental retardation 1 (FMR1) premutation.Eight asymptomatic premutation carriers, 5 participants with fragile X tremor/ataxia syndrome (FXTAS), and 7 noncarrier controls were studied. The mean age of the asymptomatic premutation carriers, participants with FXTAS (...) and the Controlled Oral Word Association Test (COWAT), and processing speed with the Symbol Digit Modalities Test.Among all 13 FMR1 premutation carriers, significant correlations were found between N-acetyl aspartate/creatine and choline/creatine in the MCP and COWAT scores, and between FA in the genu and performance on the Behavioral Dyscontrol Scale, COWAT, and Symbol Digit Modalities Test; a correlation was also found between FA in the splenium and COWAT performance. In all regions studied, participants

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2015 Neurology

236. Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers. (PubMed)

Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset movement disorder associated with FMR1 premutation alleles. Asymptomatic premutation (aPM) carriers have preserved cognitive functions, but they present subtle executive deficits. Current efforts are focusing on the identification of specific cognitive markers that can detect aPM carriers at higher risk of developing (...) FXTAS. This study aims at evaluating verbal memory and executive functions as early markers of disease progression while exploring associated brain structure changes using diffusion tensor imaging. We assessed 30 aPM men and 38 intrafamilial controls. The groups perform similarly in the executive domain except for decreased performance in motor planning in aPM carriers. In the memory domain, aPM carriers present a significant decrease in verbal encoding and retrieval. Retrieval is associated

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2014 Neurobiology of Aging

237. Differential increases of specific FMR1 mRNA isoforms in premutation carriers. (PubMed)

Differential increases of specific FMR1 mRNA isoforms in premutation carriers. Over 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an adult onset neurodegenerative disorder, while about 20% of female carriers will develop fragile X-associated primary ovarian insufficiency. Marked elevation in FMR1 mRNA transcript levels has been observed with premutation alleles, and RNA toxicity due (...) Iso10 and Iso10b, containing the complete exon 15 and differing only in splicing in exon 17.These findings suggest that RNA toxicity may arise from a relative increase of all FMR1 mRNA isoforms. Interestingly, the Iso10 and Iso10b mRNA isoforms, lacking the C-terminal functional sites for fragile X mental retardation protein function, are the most increased in premutation carriers relative to normal, suggesting a functional relevance in the pathology of FMR1-associated disorders.Published by the BMJ

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2014 Journal of Medical Genetics

238. Citocoline for Treatment of FXTAS

of this study is to determine if citocoline is effective for balance abnormalities and to stabilize cognitive decline in patients with fragile X-associated tremor ataxia syndrome. The study will test 1000mg twice daily of citocoline for 12 months in an open label pilot study, with study visits at baseline, 3, 6, and 12 months. Condition or disease Intervention/treatment Phase Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome Drug: citocoline Phase 2 Study Design Go to Layout (...) table for study information Study Type : Interventional (Clinical Trial) Actual Enrollment : 10 participants Intervention Model: Single Group Assignment Masking: None (Open Label) Primary Purpose: Treatment Official Title: Phase 2 Study of Citocoline for Treatment in Fragile X-associated Tremor/Ataxia Syndrome Study Start Date : January 2015 Actual Primary Completion Date : January 2017 Actual Study Completion Date : January 2017 Resource links provided by the National Library of Medicine related

2014 Clinical Trials

239. Nasopharyngeal Cancer, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

240. Multiple Endocrine Neoplasia, Childhood

or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes, thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most (...) familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor syndrome. Werner syndrome. DICER1 syndrome. Histology Tumors of the thyroid are classified as adenomas or carcinomas.[ - ] Adenomas are benign, well circumscribed and encapsulated nodules that may cause enlargement of all or part of the gland, which extends to both sides

2012 PDQ - NCI's Comprehensive Cancer Database

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