How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

216 results for

Fragile X-Associated Tremor-Ataxia Syndrome

by
...
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

81. A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers. Full Text available with Trip Pro

A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers. Approximately 40% of males with the fragile X premutation develop fragile X-associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated. The current study characterized structural abnormalities associated with fragile X premutation carriers (...) (with and without fragile X-associated tremor/ataxia syndrome) in the thalamus, caudate nucleus, putamen, and globus pallidus using T1-weighted and diffusion tensor imaging. Male premutation carriers with fragile X-associated tremor/ataxia syndrome showed significant volume atrophy and diffusion-weighted signal loss in all 4 structures compared with the control group. They also exhibited volume atrophy and diffusion-weighted signal loss in the thalamus and striatum compared with the premutation carriers without

2013 Movement Disorders

82. Prevalence and Risk of Migraine Headaches in Adult Fragile X Premutation Carriers. Full Text available with Trip Pro

Prevalence and Risk of Migraine Headaches in Adult Fragile X Premutation Carriers. FMR1 premutation carriers are common in the general population (1/130-260 females and 1/250-810 males) and can be affected by fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, anxiety, depression, hypertension, sleep apnea, fibromyalgia, and hypothyroidism. Here we report the results of a pilot study to assess the prevalence and risk of migraine in FMR1 premutation

2013 Clinical Genetics

83. Fragile X Mental Retardation 1 Gene CGG Repeat Expansion Screening by Melting Curve Analysis of Combined 5' and 3' Direct Triplet-Primed PCRs. Full Text available with Trip Pro

Fragile X Mental Retardation 1 Gene CGG Repeat Expansion Screening by Melting Curve Analysis of Combined 5' and 3' Direct Triplet-Primed PCRs. CGG repeat expansions in the FMR1 (fragile X mental retardation 1) gene are associated with fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency. We evaluated the use of melting curve analysis (MCA) of triplet-primed PCR (TP-PCR) assays as a rapid screening tool for the positive

2012 Clinical Chemistry

84. Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation. Full Text available with Trip Pro

expansions between 55 and 200 are carriers of the fragile X premutation (PM). PM carriers show a phenotype that can include anxiety, depression, social phobia, and memory deficits. They are also at risk for developing fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by tremor, ataxia, cognitive impairment, and neuropathologic features including intranuclear inclusions in neurons and astrocytes, loss of Purkinje cells, and white matter disease (...) Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation. The fragile X mental retardation 1 gene (Fmr1) is polymorphic for CGG trinucleotide repeat number in the 5'-untranslated region, with repeat lengths <45 associated with typical development and repeat lengths >200 resulting in hypermethylation and transcriptional silencing of the gene and mental retardation in the fragile X Syndrome (FXS). Individuals with CGG repeat

2012 Epilepsia

85. Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X. Full Text available with Trip Pro

and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers (...) Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X. Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency

2012 Pediatrics

86. Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions Full Text available with Trip Pro

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal (...) dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions. A growing body of recent evidence revealed that the RNA structures formed by these mutant RNA repeat tracts exhibit toxic effects on cells. Therefore, in this review article, we

2017 Frontiers in cellular neuroscience

87. Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases Full Text available with Trip Pro

. In this review, we highlight a number of recent studies that utilized the Drosophila model to study repeat-expansion associated diseases (READs), such as polyglutamine diseases, fragile X-associated tremor/ataxia syndrome (FXTAS), myotonic dystrophy type 1 (DM1) and type 2 (DM2), and C9ORF72-associated amyotrophic lateral sclerosis/frontotemporal dementia (C9-ALS/FTD). Discoveries regarding the possible mechanisms of RNA toxicity will be focused here. These studies demonstrate Drosophila as an excellent (...) Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular Diseases For nearly a century, the fruit fly, Drosophila melanogaster, has proven to be a valuable tool in our understanding of fundamental biological processes, and has empowered our discoveries, particularly in the field of neuroscience. In recent years, Drosophila has emerged as a model organism for human neurodegenerative and neuromuscular disorders

2017 Frontiers in cellular neuroscience

88. Unusual tremor syndromes: know in order to recognise. (Abstract)

of various unusual tremor syndromes in the adult and paediatric populations. The review comprised of a comprehensive online search using PubMed, Ovid database and Google Scholar to identify the available literature for each unusual tremor syndrome. The review includes fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor, Wilson's disease, slow orthostatic tremor, peripheral trauma-induced (...) Unusual tremor syndromes: know in order to recognise. Tremor is a common neurological condition in clinical practice; yet, few syndromes are widely recognised and discussed in the literature. As a result, there is an overdiagnosis of well-known causes, such as essential tremor. Many important unusual syndromes should be considered in the differential diagnosis of patients with tremor. The objective of this review is to provide broad clinical information to aid in the recognition and treatment

2016 Neurosurgery and Psychiatry

89. Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Full Text available with Trip Pro

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

2016 Genes

90. Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study Full Text available with Trip Pro

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric (...) disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country. After signing the written informed consent, we studied their electronic medical records in order to identify the disorders associated with the PM and their frequencies. We obtained clinical data in 188 PM carriers (147 women and 41 men). In women, the frequency of FXPOI

2016 Genes

91. Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells Full Text available with Trip Pro

. 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 (...) -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

2015 World journal of stem cells

92. Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford

-truncal Ataxia Syndrome Infection or Post Infection Ataxia Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia Infantile Onset Spinocerebellar Ataxia GAD Ataxia Hereditary Episodic Ataxia Gliadin/Gluten Ataxia Friedreich Ataxia Fragile X-associated Tremor/Ataxia Syndrome Familial Paroxysmal Ataxia Exposure to Medications Ataxia Episodic Ataxia With Slurred Speech Episodic Ataxia Unknown Type Episodic Ataxia Type 7 Episodic Ataxia Type 6 Episodic Ataxia Type 5 Episodic Ataxia Type 4 (...) . The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll. Condition or disease Rare Disorders Undiagnosed Disorders Disorders of Unknown Prevalence Cornelia De Lange Syndrome Prenatal Benign Hypophosphatasia Perinatal Lethal Hypophosphatasia Odontohypophosphatasia Adult Hypophosphatasia Childhood-onset Hypophosphatasia Infantile Hypophosphatasia Hypophosphatasia Kabuki Syndrome Bohring-Opitz Syndrome Narcolepsy Without Cataplexy Narcolepsy-cataplexy

2013 Clinical Trials

93. Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats Full Text available with Trip Pro

Nuclear Accumulation of Stress Response mRNAs Contributes to the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in Fragile X premutation carriers. Previous studies found that Fragile X rCGG repeats are sufficient to cause neurodegeneration and that the rCGG repeat-binding proteins Pur α and hnRNP A2/B1 can modulate rCGG-mediated neuronal toxicity. To explore the role of Pur α in rCGG

2011 PLoS genetics

94. Diffusion tensor imaging in male premutation carriers of the fragile x mental retardation gene. Full Text available with Trip Pro

Diffusion tensor imaging in male premutation carriers of the fragile x mental retardation gene. Older male premutation carriers of the FMR1 gene are associated with the risk of developing a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. Although previous postmortem and in vivo magnetic resonance imaging studies have indicated white matter pathology, the regional selectivity of abnormalities, as well as their relationship with molecular variables of the FMR1 (...) gene, has not been investigated. In this study, we used diffusion tensor imaging to study male premutation carriers with and without fragile X-associated tremor/ataxia syndrome and healthy sex-matched controls. We performed a tract of interest analysis for fractional anisotropy and axial and radial diffusivities of major white matter tracts in the cerebellar-brain stem and limbic systems. Compared with healthy controls, patients with fragile X-associated tremor/ataxia syndrome showed significant

2011 Movement Disorders

95. Selective executive markers of at-risk profiles associated with the fragile X premutation. Full Text available with Trip Pro

Selective executive markers of at-risk profiles associated with the fragile X premutation. This study determined whether CGG repeat length moderates the relationship between age and performance on selective measures of executive function in premutation carriers (PM) who are asymptomatic for a recently described late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).Forty PM men aged 18-69 years with a family history of fragile X syndrome underwent

2011 Neurology

96. Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues Full Text available with Trip Pro

therapy.A retrospective database review was performed, searching for cases of ataxia where tremor and/or dystonia were addressed by utilizing DBS at the University of Florida Center for Movement Disorders and Neurorestoration between 2008 and 2011. Five patients were found who had DBS implantation to address either medication refractory tremor or dystonia. The patient's underlying diagnoses included spinocerebellar ataxia type 2 (SCA2), fragile X associated tremor ataxia syndrome (FXTAS), a case (...) Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor. Though ataxia syndromes have not been formally or frequently addressed with DBS, there are patients with ataxia and associated medication refractory tremor or dystonia who may potentially benefit from

2014 Tremor and Other Hyperkinetic Movements

97. Genetic Characterization of Movement Disorders

. Participants may be called back for extra Condition or disease Ataxia Dystonia Parkinson's Disease Amyotrophic Lateral Sclerosis Corticobasal Degeneration Multiple System Atrophy Alzheimer's Disease Lewy Body Dementia Parkinson Disease-Dementia Dentatorubral-pallidoluysian Atrophy Creutzfeldt-Jakob Disease and Fatal Familial Insomnia Fragile X-associated Tremor/Ataxia Syndrome Krabbe's Disease Niemann-Pick Disease, Type C Neuronal Ceroid Lipofuscinosis Detailed Description: Objective The objective (...) disorder or dementia, such as a specific environmental exposure, birth injury, metabolic disorder, or brain infection such as encephalitis For all participants: Clinically significant anemia that would make phlebotomy unsafe, and participant unwilling to provide saliva sample. Clinically significant bleeding that would make phlebotomy unsafe, and participant unwilling to provide saliva sample. Any medical condition that would make phlebotomy unsafe or undesirable, such as a serious medical illness like

2013 Clinical Trials

98. Lifetime prevalence of mood and anxiety disorders in fragile x premutation carriers. Full Text available with Trip Pro

Lifetime prevalence of mood and anxiety disorders in fragile x premutation carriers. The authors studied the lifetime prevalence of DSM-IV-TR psychiatric disorders in a population of adults with the fragile X premutation.The Structured Clinical Interview for DSM-IV was conducted, from 2007-2008, in 85 individuals with the fragile X premutation, 47 with the fragile X-associated tremor/ataxia syndrome (FXTAS; 33 male, 14 female; mean age = 66 years) and 38 without FXTAS (16 male, 22 female; mean (...) of the fragile X premutation had a notably high lifetime risk of mood and anxiety disorders. Mood and anxiety disorders may be part of the clinical phenotype of the fragile X premutation conditions, especially in carriers with FXTAS. Clinicians encountering these patients are advised to consider FXTAS as a neuropsychiatric syndrome as well as a neurologic disorder.© Copyright 2011 Physicians Postgraduate Press, Inc.

2010 Journal of Clinical Psychiatry

99. Guideline on the management of premature ovarian insufficiency

.a Breast cancer 110 12.2.b Endometrial cancer and endometrial hyperplasia 111 12.2.c Stroke 112 12.2.d Thromboembolic disease 112 12.3. HRT – treatment options 112 12.3.a Type of preparations: Estrogens and progestogens 113 12.3.b Regimens 114 12.3.c Route of administration 115 12.3.d Dose 117 12.3.e Duration 118 12.4. Monitoring HRT 119 12.5. POI women with special issues 120 12.5.a Women with Turner Syndrome 120 12.5.b Women with POI and a BRCA gene mutation or after breast cancer 121 12.5.c Women (...) scope This guideline offers best practice advice on the care of women with premature ovarian insufficiency, both primary and secondary. The patient population comprises women younger than 40 years (which includes Turner Syndrome patients) and women older than 40 years, but with disease onset before 40. The first chapters of this guideline will elaborate on the nomenclature and definition of premature ovarian insufficiency. Furthermore, this clinical guideline provides recommendations on the initial

2015 European Society of Human Reproduction and Embryology

100. A systematic review of the clinical effectiveness and cost-effectiveness of sensory, psychological and behavioural interventions for managing agitation in older adults with dementia

and provide care in the NHS. ‘Health technologies’ are broadly defined as all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long-term care. The journal is indexed in NHS Evidence via its abstracts included in MEDLINE and its Technology Assessment Reports inform National Institute for Health and Care Excellence (NICE) guidance. HTA research is also an important source of evidence for National Screening Committee (NSC) policy decisions. For more information (...) is currently estimated to cost £23B per year. 1 The number of people with dementia is projected to reach over 1 million by 2020 and double again in the subsequent 20 years. Costs are expected to treble in the next 30 years as the number of older people increases. 2,3 For comparison, the entire NHS budget was £110B in 2009. 4 Dementia affects not only the person with the illness, but also his or her family and society. The Alzheimer’s Society Dementia UK report found that current levels of services

2014 NIHR HTA programme

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>