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.

419 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. Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice (PubMed)

Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice Fragile X syndrome (FXS) is a common inherited cause of intellectual disability that results from a CGG repeat expansion in the FMR1 gene. Large repeat expansions trigger both transcriptional and translational suppression of Fragile X protein (FMRP) production. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is an allelic neurodegenerative disease caused by smaller "pre-mutation" CGG repeat expansions (...) more akin to human testing conditions, we find that Fmr1 KO animals have significantly impaired PPI. Using this same protocol, we find CGG KI mice demonstrate an age-dependent impairment in PPI compared to wild type (WT) controls. This study describes a novel phenotype in CGG KI mice that can be used in future therapeutic development targeting premutation associated symptoms. Published by Elsevier B.V.

Full Text available with Trip Pro

2014 Behavioural brain research

82. CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size (PubMed)

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autism spectrum disorder. Smaller expansions (55-200 CGG repeats; premutation) result in the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Whereas FXS is caused (...) by gene silencing and insufficient FMR1 protein (FMRP), FXTAS is thought to be caused by 'toxicity' of expanded-CGG-repeat mRNA. However, as FMRP expression levels decrease with increasing CGG-repeat length, lowered protein may contribute to premutation-associated clinical involvement. To address this issue, we measured brain Fmr1 mRNA and FMRP levels as a function of CGG-repeat length in a congenic (CGG-repeat knock-in) mouse model using 57 wild-type and 97 expanded-CGG-repeat mice carrying up

Full Text available with Trip Pro

2014 Human molecular genetics

83. Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers (PubMed)

FXD have recently been identified that are caused by 'premutation' range expansions (55-200). These disorders are characterized by a spectrum of neuropsychiatric manifestations ranging from an increased risk of neurodevelopmental, mood and anxiety disorders to neurodegenerative phenotypes such as the fragile X-associated tremor ataxia syndrome (FXTAS). Here, we review advances in the clinical understanding of neuropsychiatric disorders in premutation carriers across the lifespan and offer guidance (...) Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers Fragile X-associated disorders (FXD) are a group of disorders caused by expansion of non-coding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome (FXS), is the most common heritable cause of intellectual disability, and is caused by large CGG repeat expansions (>200) resulting in silencing of the FMR1 gene. An increasingly recognized number of neuropsychiatric

Full Text available with Trip Pro

2014 Future Neurology

84. A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation (PubMed)

A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing

Full Text available with Trip Pro

2014 Journal of neurodevelopmental disorders

85. Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. (PubMed)

Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that affects carriers of the fragile X premutation, typically after age 50. Common symptoms include intention tremor, ataxia, neuropathy, autonomic dysfunction, cognitive decline, and dementia. The objectives of this study were to determine if patients with FXTAS have altered prepulse inhibition (PPI; a measure (...) of sensorimotor gating), and to study possible correlations between PPI, molecular status, and cognitive performance. A passive acoustic PPI paradigm was applied in 163 subjects; 121 carriers of the fragile X premutation, and 42 healthy controls. There were significant differences in PPI between premutation carriers with FXTAS and controls at PPI 60 ms, and at 120 ms. This effect was more prominent in the male FXTAS patients. There was a tendency to an impaired PPI in female premutation carriers at the 120 ms

Full Text available with Trip Pro

2010 Neurobiology of Aging

86. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. (PubMed)

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Women with the fragile X mental retardation 1 (FMR1) premutation often have concerns about neurological and medical problems, as they become older and if their fathers experience fragile X-associated tremor/ataxia syndrome (FXTAS). We therefore determined the prevalence of these problems in 110 daughters of men with FXTAS [mean age of 44.8 years (SD 8.2)]. We compared them with 43 female controls (...) with normal FMR1 alleles [mean age of 43.8 years (SD 8.1)] and 36 premutation carrier daughters of parents with the premutation, but without FXTAS [mean age of 43.5 years (SD 7.7)]. Overall, daughters of men with FXTAS have a higher prevalence of neurological symptoms including tremor, balance problems, memory problems, and dizziness, menopausal symptoms, and psychiatric involvement including sleep problems and anxiety when compared with non-carrier female controls. Reported balance problems

Full Text available with Trip Pro

2010 Clinical Genetics

87. Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (PubMed)

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Fragile X-associated tremor/ataxia syndrome, a neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the FMR1 gene, affects many carriers in late-life. Patients with fragile X-associated tremor/ataxia syndrome typically have cerebellar ataxia, intranuclear inclusions in neurons and astrocytes, as well as cognitive impairment. Dementia can also be present with cognitive deficits (...) that are as severe as in Alzheimer's disease, however frontosubcortical type impairment is more pronounced in fragile X-associated tremor/ataxia syndrome. We sought to characterize the P600 and N400 word repetition effects in patients with fragile X-associated tremor/ataxia syndrome, using an event-related potential word repetition paradigm with demonstrated sensitivity to very early Alzheimer's disease. We hypothesized that the fragile X-associated tremor/ataxia syndrome-affected participants with poor

Full Text available with Trip Pro

2010 Brain

88. TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME (PubMed)

molecular and neurobiological overlaps among disorders, targeted treatments developed for a specific disorder may be helpful in ASD of unknown etiology. Examples of this are two drug classes developed to treat FXS, Arbaclofen, a GABA(B) agonist, and mGluR5 antagonists, and both may be helpful in autism without FXS. The mGluR5 antagonists are also likely to have a benefit in the aging problems of fragile X premutation carriers, the fragile X -associated tremor ataxia syndrome (FXTAS) and the Parkinsonism (...) TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted as highly heritable, there is no genetic cure at this time. Autism is shown to be linked

Full Text available with Trip Pro

2012 Research in Autism Spectrum Disorders

89. A Phase 2 RCT Study of CX-8998 for Essential Tremor

cause or explain subject's tremor, including, but not limited to: a. Parkinson's disease b. dystonia c. cerebellar disease, other than essential tremor d. Traumatic Brain Injury e. alcohol abuse or withdrawal f. mercury poisoning g. hyperthyroidism h. pheochromocytoma i. head trauma or cerebrovascular disease within 3 months prior to the onset of essential tremor j. multiple sclerosis k. polyneuropathy l. family history of Fragile X syndrome Prior MR-guided Focused Ultrasound or surgical (...) A Phase 2 RCT Study of CX-8998 for Essential Tremor A Phase 2 RCT Study of CX-8998 for Essential Tremor - 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. A Phase 2 RCT Study of CX-8998 for Essential Tremor

2017 Clinical Trials

90. Focused Ultrasound for Essential Tremor: Review of the Evidence and Discussion of Current Hurdles (PubMed)

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 (...) Focused Ultrasound for Essential Tremor: Review of the Evidence and Discussion of Current Hurdles While there is no breakthrough progress in the medical treatment of essential tremor (ET), in the past decades several remarkable achievements happened in the surgical field, such as radiofrequency thalamotomy, thalamic deep brain stimulation, and gamma knife thalamotomy. The most recent advance in this area is magnetic resonance-guided focused ultrasound (MRgFUS).The purpose of this review

Full Text available with Trip Pro

2017 Tremor and Other Hyperkinetic Movements

91. Clinical Report--Health Supervision for Children With Fragile X Syndrome. (PubMed)

with mental retardation and other conditions (premature ovarian failure and tremor/ataxia), family history information is of critical importance for the diagnosis and management of affected patients and their families. This report summarizes issues for fragile X syndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-related health supervision guidelines. The diagnosis of fragile X syndrome not only involves the affected (...) Clinical Report--Health Supervision for Children With Fragile X Syndrome. Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple family members can be affected

Full Text available with Trip Pro

2011 Pediatrics

92. Selective executive markers of at-risk profiles associated with the fragile X premutation. (PubMed)

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 (...) neuropsychological tests of inhibition and working memory. We examined only men who are asymptomatic for FXTAS. Multiple regression analyses were conducted to examine the moderating role of CGG repeat length on the relation between age and performance on inhibition and working memory tasks.With increasing age and only in men with an FMR1 expansion in the upper premutation range (>100 CGG repeats) was there an association between age and poorer task performance on selective executive function measures involving

Full Text available with Trip Pro

2011 Neurology

93. 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 (...) by subacute or acute onset of gait and limb ataxia, dysarthria, and ocular dysmetria [50]. Paraneoplastic syndromes may be caused by any primary tumor but are most commonly associated with breast, gynecologic, and lung tumors, and with Hodgkin disease [50]. Patients with acute cerebellitis present with truncal ataxia, dysmetria, and headache. In severe cases, there may be altered consciousness, additional neurological deficits, increased intracranial pressure, hydrocephalus, and even herniation [51

2012 American College of Radiology

94. Improving Fragile X–Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine (PubMed)

Improving Fragile X–Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine 20841969 2011 08 08 2018 11 13 1533-712X 30 5 2010 Oct Journal of clinical psychopharmacology J Clin Psychopharmacol Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. 642-4 10.1097/JCP.0b013e3181f1d10a Ortigas Melina C MC Bourgeois James A JA Schneider Andrea A Olichney John J Nguyen Danh V DV Cogswell Jennifer B JB Hall Deborah A DA Hagerman Randi J RJ (...) administration & dosage Drug Therapy, Combination Female Follow-Up Studies Fragile X Mental Retardation Protein genetics Fragile X Syndrome complications drug therapy genetics Humans Memantine administration & dosage Tremor drug therapy etiology Venlafaxine Hydrochloride 2010 9 16 6 0 2010 9 16 6 0 2011 8 9 6 0 ppublish 20841969 10.1097/JCP.0b013e3181f1d10a 00004714-201010000-00033 PMC4022473 NIHMS577677 Brain. 2000 Sep;123 ( Pt 9):1948-63 10960058 Expert Opin Investig Drugs. 2000 Jun;9(6):1397-406 11060751

Full Text available with Trip Pro

2010 Journal of Clinical Psychopharmacology

95. Phenotypes of hypofrontality in older female fragile x premutation carriers. (PubMed)

Phenotypes of hypofrontality in older female fragile x premutation carriers. To investigate the nature of cognitive impairments and underlying brain mechanisms in older female fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome (FXTAS).Extensive neuropsychological testing and cognitive event-related brain potentials (ERPs; particularly, the auditory P300) were examined in 84 female participants: 33 fragile X premutation carriers with FXTAS (mean age (...) with and without FXTAS, although these deficits are relatively mild compared to those in FXTAS males. These findings are consistent with a synergistic effect of the premutation and aging on cognitive impairment among older female fragile X premutation carriers, even in those without FXTAS symptoms.© 2013 American Neurological Association.

Full Text available with Trip Pro

2013 Annals of Neurology

96. A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers. (PubMed)

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

Full Text available with Trip Pro

2013 Movement Disorders

97. Prevalence and Risk of Migraine Headaches in Adult Fragile X Premutation Carriers. (PubMed)

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

Full Text available with Trip Pro

2013 Clinical Genetics

98. Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene (PubMed)

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene The human fragile X mental retardation 1 (FMR1) gene contains a (CGG)(n) trinucleotide repeat in its 5' untranslated region (5'UTR). Expansions of this repeat result in a number of clinical disorders with distinct molecular pathologies, including fragile X syndrome (FXS; full mutation range, greater than 200 CGG repeats) and fragile X-associated tremor/ataxia syndrome (FXTAS; premutation range, 55-200 repeats

Full Text available with Trip Pro

2013 Genome Research

99. Fragile X Mental Retardation 1 Gene CGG Repeat Expansion Screening by Melting Curve Analysis of Combined 5' and 3' Direct Triplet-Primed PCRs. (PubMed)

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

Full Text available with Trip Pro

2012 Clinical Chemistry

100. Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X. (PubMed)

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

Full Text available with Trip Pro

2012 Pediatrics

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