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Fragile X-Associated Tremor-Ataxia Syndrome

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121. Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes Full Text available with Trip Pro

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

2016 Nucleic acids research

122. Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab Full Text available with Trip Pro

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

2016 Genes

123. Robust Machine Learning-Based Correction on Automatic Segmentation of the Cerebellum and Brainstem Full Text available with Trip Pro

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

2016 PloS one

124. Cerebellar mild iron accumulation in a subset of FMR1 premutation carriers with FXTAS Full Text available with Trip Pro

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

2016 Cerebellum (London, England)

125. 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

126. RAN translation—what makes it run? Full Text available with Trip Pro

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 (...) RAN translation—what makes it run? Nucleotide-repeat expansions underlie a heterogeneous group of neurodegenerative and neuromuscular disorders for which there are currently no effective therapies. Recently, it was discovered that such repetitive RNA motifs can support translation initiation in the absence of an AUG start codon across a wide variety of sequence contexts, and that the products of these atypical translation initiation events contribute to neuronal toxicity. This review examines

2016 Brain research

127. Warburg effect linked to cognitive-executive deficits in FMR1 premutation Full Text available with Trip Pro

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

2016 The FASEB Journal

128. Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers Full Text available with Trip Pro

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 (...) , and disease progression. To this end, plasma metabolomic phenotyping was obtained for 23 premutation carriers and 16 age- and sex-matched controls. Three biomarkers, phenylethylamine normalized by either aconitate or isocitrate and oleamide normalized by isocitrate, exhibited excellent model performance. The lower phenylethylamine and oleamide plasma levels in carriers may indicate, respectively, incipient nigrostriatal degeneration and higher incidence of substance abuse, anxiety and sleep disturbances

2016 Frontiers in molecular neuroscience

129. 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

130. Middle cerebellar peduncles: Magnetic resonance imaging and pathophysiologic correlate Full Text available with Trip Pro

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 (...) Middle cerebellar peduncles: Magnetic resonance imaging and pathophysiologic correlate We describe common and less common diseases that can cause magnetic resonance signal abnormalities of middle cerebellar peduncles (MCP), offering a systematic approach correlating imaging findings with clinical clues and pathologic mechanisms. Myelin abnormalities, different types of edema or neurodegenerative processes, can cause areas of abnormal T2 signal, variable enhancement, and patterns of diffusivity

2015 World journal of radiology

131. 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

132. Differential increases of specific FMR1 mRNA isoforms in premutation carriers. Full Text available with Trip Pro

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 (...) to increased mRNA levels is the leading molecular mechanism proposed for these disorders. However, although the FMR1 gene undergoes alternative splicing, it is unknown whether all or only some of the isoforms are overexpressed in premutation carriers and which isoforms may contribute to the premutation pathology.To address this question, we have applied a long-read sequencing approach using single-molecule real-time (SMRT) sequencing and qRT-PCR.Our SMRT sequencing analysis performed on peripheral blood

2014 Journal of Medical Genetics

133. Diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT: a clinical follow up study Full Text available with Trip Pro

patients underwent a second DaT-SPECT, were then followed for additional 12 months and thereafter the diagnosis was reconsidered again. The final diagnoses included cases of essential tremor, dystonic tremor, multisystem atrophy, vascular parkinsonism, progressive supranuclear palsy, corticobasal degeneration, fragile X-associated tremor ataxia syndrome, psychogenic parkinsonism, iatrogenic parkinsonism and Parkinson's disease. However, for 6 patients the diagnosis remained uncertain. Larger series (...) are needed to better establish the relative frequency of the different conditions behind these cases.

2014 Frontiers in aging neuroscience

134. Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers. Full Text available with Trip Pro

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

2014 Neurobiology of Aging

135. Ovarian Insufficiency (Diagnosis)

, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, et al. Population-based (...) . Autoimmune endocrinopathies in female reproductive dysfunction. Volpe R, ed. Contemporary Endocrinology: Autoimmune Endocrinopathies . Totowa , NJ: Humana Press; 1999. 365-91. Gordon CM, Nelson LM. Amenorrhea and bone health in adolescents and young women. Curr Opin Obstet Gynecol . 2003 Oct. 15(5):377-84. . Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor

2014 eMedicine.com

136. Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure (Overview)

, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, et al. Population-based (...) . Autoimmune endocrinopathies in female reproductive dysfunction. Volpe R, ed. Contemporary Endocrinology: Autoimmune Endocrinopathies . Totowa , NJ: Humana Press; 1999. 365-91. Gordon CM, Nelson LM. Amenorrhea and bone health in adolescents and young women. Curr Opin Obstet Gynecol . 2003 Oct. 15(5):377-84. . Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor

2014 eMedicine.com

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

atrophy [DRPLA]) Autosomal recessive Triplet repeat disorders (eg, Friedreich ataxia) Impaired DNA repair mechanisms (eg, xeroderma pigmentosum, Cockayne syndrome) Enzyme defects (eg, Refsum disease, sphingolipidosis) Protein misfolding (eg, spastic ataxia of Charlevoix-Saguenay) Maternal inheritance - Mitochondrial disorders (eg, neuropathy, ataxia, retinitis pigmentosa [NARP]) Ataxias with polymyoclonus and seizures Autosomal recessive Dodecamer repeat expansions (eg, Baltic myoclonus) Enzyme (...) 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

2014 eMedicine.com

138. Ovarian Insufficiency (Treatment)

, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet . 2004 May. 74(5):1051-6. . Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev . 1997 Feb. 18(1):107-34. . Johnson J, Canning J, Kaneko T, Pru JK, Tilly JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature . 2004 Mar 11. 428(6979):145-50. . Kalantaridou SN, Braddock DT, Patronas NJ, Nelson LM. Treatment (...) -9. . Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M

2014 eMedicine.com

139. Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure (Treatment)

, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet . 2004 May. 74(5):1051-6. . Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev . 1997 Feb. 18(1):107-34. . Johnson J, Canning J, Kaneko T, Pru JK, Tilly JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature . 2004 Mar 11. 428(6979):145-50. . Kalantaridou SN, Braddock DT, Patronas NJ, Nelson LM. Treatment (...) -9. . Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M

2014 eMedicine.com

140. Ovarian Insufficiency (Overview)

, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, et al. Population-based (...) . Autoimmune endocrinopathies in female reproductive dysfunction. Volpe R, ed. Contemporary Endocrinology: Autoimmune Endocrinopathies . Totowa , NJ: Humana Press; 1999. 365-91. Gordon CM, Nelson LM. Amenorrhea and bone health in adolescents and young women. Curr Opin Obstet Gynecol . 2003 Oct. 15(5):377-84. . Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor

2014 eMedicine.com

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