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Fragile X-Associated Tremor-Ataxia Syndrome

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101. CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders Full Text available with Trip Pro

CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders Over 20 genetic loci with abnormal expansions of short tandem repeats have been associated with human hereditary neurological diseases. Of these, specific trinucleotide repeats located in non-coding and coding regions of individual genes implicated in these disorders are strongly overrepresented. Expansions of CTG, CGG and CAG repeats are linked to, respectively, myotonic dystrophy type 1 (DM1), fragile X-associated tremor (...) /ataxia syndrome (FXTAS), as well as Huntington's disease (HD) and a number of spinocerebellar ataxias (SCAs). Expanded CAG repeats in translated exons trigger the most disorders for which a protein gain-of-function mechanism has been proposed to explain neurodegeneration by polyglutamine-rich (poly-Q) proteins. However, the results of last years showed that RNA composed of mutated CAG repeats can also be toxic and contribute to pathogenesis of polyglutamine disorders through an RNA-mediated gain

2011 RNA biology

102. 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 (...) in FXTp+ than FXTp- are consistent with findings in Parkinson's disease (PD), and may indicate that concomitant and/or synergistic pathogenetic mechanisms associated with PD play a role in FXTAS. These results have implications not only for understanding the cognitive impairments associated with the parkinsonism subtype of FXTAS, but also for the development of new interventions for these patients.

2018 Frontiers in genetics

103. Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia Full Text available with Trip Pro

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia Here we report five cases of male FMR1 premutation carriers who present without clinical symptoms of the fragile X-associated tremor/ataxia syndrome (FXTAS), but who on MRI demonstrate white matter hyperintensities in the middle cerebellar peduncles (MCP sign) and other brain regions, a rare finding. MCP sign is the major radiological feature of FXTAS; it is therefore remarkable to identify five (...) cases in which this MRI finding is present in the absence of tremor and ataxia, the major clinical features of FXTAS. Subjects underwent a detailed neurological evaluation, neuropsychological testing, molecular testing, and MRI evaluation utilizing T2 imaging described here. Additional white matter disease was present in the corpus callosum in four of the five cases. However, all cases were asymptomatic for motor signs of FXTAS.

2018 Frontiers in neurology

104. Neurological health and premature ovarian insufficiency – pathogenesis and clinical management Full Text available with Trip Pro

neurological disorders, ovarioleukodystrophy and fragile X-associated tremor/ataxia syndrome (FXTAS) are reported. (...) Neurological health and premature ovarian insufficiency – pathogenesis and clinical management Premature ovarian insufficiency (POI) is related to neurological problems through neurological symptoms of oestrogen deficiency, diseases caused by oestrogen deficiency, and neurological genetic diseases. Neurological symptoms of oestrogen deficiency are usually reported as climacteric symptoms. Diseases caused by oestrogen deficiency are dementia, cognitive decline, and Parkinsonism. Among genetic

2018 PrzeglaÌœd menopauzalny = Menopause review

105. Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy Full Text available with Trip Pro

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy Dual pathology in fragile X mental retardation 1 (FMR1) premutation carriers and fragile X-associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon. Although it includes atypical parkinsonism, neuropathological confirmation is very scarce. Here, we describe neuropathological findings for a female who suffered a severe parkinsonian syndrome with apraxia and supranuclear palsy. She died (...) , and neurons. This is, to best of our knowledge, the first report describing a pathologically confirmed progressive supranuclear palsy - corticobasal syndrome (PSP-CBS) variant case in a FMR1 premutation carrier.

2018 Frontiers in genetics

106. Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats Full Text available with Trip Pro

Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expanded CGG (CGGexp) trinucleotides in the 5'UTR of the FMR1 gene encoding fragile X mental retardation protein (FMRP). The patients, with the number of the repeats ranging from 55 to 200, show specific manifestation of clinical symptoms that include intention tremor (...) of FMRP and FMRpolyG quantitative and qualitative changes after treatment with potential therapeutic agents for FXTAS. Furthermore, they can be modified for application to other RAN translation- and aggregation-related diseases.

2018 Frontiers in genetics

107. Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS Full Text available with Trip Pro

Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS Background: Fragile-X associated tremor/ataxia syndrome (FXTAS) is commonly associated with T2 hyperintensity in the middle cerebellar peduncles (MCP) on magnetic resonance imaging (MRI). However, ischemic stroke in the MCP in a patient with FXTAS has not previously been described. Case Description: A 61-year-old man with hypertension, sleep apnea, obesity, and FXTAS presented to the emergency department with 2 days of worsening (...) balance and nausea which began 2 days after chiropractic neck manipulation. Examination revealed new nystagmus and worsening dysmetria. Workup revealed an acute infarct in the left MCP, atherosclerotic narrowing of the V4 segment of the left vertebral artery, inadequately controlled hypertension, and a LDL of 127. Conclusion: Isolated MCP infarcts are rare and typically associated with hypoperfusion in the setting of vertebral artery disease and neck manipulation. We suspect that underlying

2018 Frontiers in genetics

108. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. Full Text available with Trip Pro

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72 gene. When no mutation has been identified in the aforementioned genes next (...) -generation sequencing (NGS)-based diagnostics may also be applied. In order to define an optimal diagnostic strategy, more information about the frequency and phenotypic characteristics of rare repeat expansion disorders associated with ataxia should be at hand.We analyzed a consecutive cohort of 440 German unrelated patients with symptoms of cerebellar ataxia, dysarthria and other unspecific symptoms who were referred to our center for SCA diagnostics. They showed alleles in the normal range

2018 BMC Neurology

109. The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers Full Text available with Trip Pro

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers The fragile X premutation (PM) allele contains a CGG expansion of 55-200 repeats in the FMR1 gene's promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X-associated tremor/ataxia syndrome (...) the lowest end of the PM repeat range, and non-syndromic carriers assumed an intermediate position. The size of the CGG expansion was significantly correlated, across all three categories, with infratentorial and total wmhs and with all motor scores, and the FMR1 mRNA levels with all the wmh scores, whilst AMPK activity showed considerable elevation in the non-FXTAS combined group, decreasing in the FXTAS group, proportionally to increasing severity of the wmhs and tremor/ataxia. We conclude

2018 Frontiers in genetics

110. Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? Full Text available with Trip Pro

Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50. However, there is a lack of prognostic biomarkers to aid early diagnosis and treatment planning. Therefore, this study aimed to assess the utility of the Magnetic Resonance Parkinson Index (MRPI) as a potential MRI biomarker for FXTAS (...) not be a useful biomarker for FXTAS, decreased MCP width may be one of the first notable signs of FXTAS, and therefore the first biomarker with the potential to identify those most at risk for the disorder.

2018 Frontiers in neuroscience

111. Clinical implication of FMR1 intermediate alleles in a Spanish population. Full Text available with Trip Pro

Clinical implication of FMR1 intermediate alleles in a Spanish population. FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known (...) as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear. The aim of this study was to provide new data on the clinical implications of IA. We reviewed a total of 17 011 individuals: 1142 with primary ovarian insufficiency, 478 with movement disorders, 14 006 with neurodevelopmental disorders and 1385 controls. Similar IA frequencies were

2018 Clinical Genetics

112. Microglial cell activation and senescence are characteristic of the pathology FXTAS. Full Text available with Trip Pro

Microglial cell activation and senescence are characteristic of the pathology FXTAS. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene. Expansions of more than 200 CGG repeats give rise to fragile X syndrome, the most common inherited form of cognitive impairment. Fragile X-associated tremor/ataxia syndrome is characterized by cerebellar tremor and ataxia, and the presence of ubiquitin-positive (...) inclusions in neurons and astrocytes. It has been previously suggested that fragile X-associated tremor/ataxia syndrome is associated with an inflammatory state based on signs of oxidative stress-mediated damage and iron deposition.Determine whether the pathology of fragile X-associated tremor/ataxia syndrome involves microglial activation and an inflammatory state.Using ionized calcium binding adaptor molecule 1 and cluster differentiation 68 antibodies to label microglia, we examined the number

2018 Movement Disorders

113. Ubiquitin-Positive Intranuclear Inclusions in Neuronal and Glial Cells in a Mouse Model of the Fragile-X Premutation Full Text available with Trip Pro

Ubiquitin-Positive Intranuclear Inclusions in Neuronal and Glial Cells in a Mouse Model of the Fragile-X Premutation Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental retardation 1 (FMR1) gene. The neuropathological hallmark of the disease is the presence of ubiquitin-positive intranuclear inclusions in neurons and in astrocytes. Ubiquitin-positive intranuclear inclusions have

2010 Brain research

114. Ataxia

syndromes or diseases have ataxia as a component, including Christianson syndrome, Niemann-Pick disease type C, neuroferritinopathy, ataxia-telangiectasia [72,73], Huntington disease, Friedreich ataxia [74-79], fragile X-associated tremor/ataxia syndrome [80,81], and the spinocerebellar ataxias [82-86]. CT Head CT is less sensitive and specific for comprehensive evaluation of these conditions compared to MRI in the nonemergent setting. CT head with IV contrast is preferred. Dual phase of both (...) present with posterior fossa symptoms, including ataxia [64,65]. Chiari I, cerebellar hypoplasias or agenesis, rhombencephalosynapsis, and Joubert syndrome are examples [66-69]. Lhermitte-Duclos disease is variously considered a neoplasm or a hamartoma, and has an association with Cowden disease [70]. Cerebellar atrophy in childhood can be due to mitochondrial disorders, neuronal ceroid lipofuscinosis, ataxia telangiectasia, GM2 gangliosidosis, among others [71]. A number of genetic or inherited

2012 American College of Radiology

115. 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

116. Age-related functional brain changes in FMR1 premutation carriers Full Text available with Trip Pro

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 (...) finger-tapping, random finger-tapping and rest conditions. The imaging analysis contrasted the sequential and random conditions to investigate activation changes in response to a change in task demand. Additionally, measurements were obtained of participant tremor, co-ordination and balance using the CATSYS-2000 system and measures of FMR1 mRNA were quantified from peripheral blood samples using quantitative real-time PCR methodology. Premutation carriers demonstrated significantly less cerebellar

2017 NeuroImage : Clinical

117. Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases Full Text available with Trip Pro

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.

2017 Croatian medical journal

118. Focused Ultrasound for Essential Tremor: Review of the Evidence and Discussion of Current Hurdles Full Text available with Trip Pro

is to discuss the new developments and trials of MRgFUS in the treatment of ET and other tremor disorders.MRgFUS is an incisionless surgery performed without anesthesia and ionizing radiation (no risk of cumulative dose and delayed side effects). Studies have shown the safety and effectiveness of unilateral MRgFUS-thalamotomy in the treatment of ET. It has been successfully used in a few patients with Parkinson's disease-related tremor, and in fewer patients with fragile X-associated tremor/ataxia syndrome

2017 Tremor and Other Hyperkinetic Movements

119. Altered expression of the FMR1 splicing variants landscape in premutation carriers Full Text available with Trip Pro

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

2017 Biochimica et biophysica acta

120. Social anxiety and autism spectrum traits among adult FMR1 premutation carriers. (Abstract)

female but not male carriers. The AQ questionnaire found statistically significant differences between premutation carriers and controls in the total AQ as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman's correlation analysis revealed a moderately positive correlation with the total AQ scores as well as the social skills and communication subdomains. Our results show that fragile X-associated tremor/ataxia (...) Social anxiety and autism spectrum traits among adult FMR1 premutation carriers. Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires. Fifty-nine premutation carriers were compared with 50 controls. The SPIN test showed statistically significant differences between

2016 Clinical Genetics

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