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Fragile X-Associated Tremor-Ataxia Syndrome

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81. 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

82. 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

83. Impaired sensorimotor gating in Fmr1 knock out and Fragile X premutation model mice Full Text available with Trip Pro

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.

2014 Behavioural brain research

84. CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size Full Text available with Trip Pro

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

2014 Human molecular genetics

85. A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation Full Text available with Trip Pro

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

2014 Journal of neurodevelopmental disorders

86. Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers Full Text available with Trip Pro

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

2014 Future Neurology

87. Phenotypes of hypofrontality in older female fragile x premutation carriers. Full Text available with Trip Pro

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.

2013 Annals of Neurology

88. 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

89. 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

90. Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene Full Text available with Trip Pro

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

2013 Genome Research

91. 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

92. 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

93. 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

94. Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency Full Text available with Trip Pro

Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency FMR1 premutation (PM) alleles have 55-200 CGG·CCG-repeats in their 5' UTR. PM carriers are at risk of fragile X-associated tremor and ataxia syndrome (FXTAS). Females are also at risk for FX primary ovarian insufficiency (FXPOI). PM pathology is generally attributed to deleterious properties of transcripts with long CGG-tracts. For FXPOI, hormone changes suggest a reduced residual follicle pool. Whether

2012 Journal of Histochemistry and Cytochemistry

95. Fragile X Syndrome

Fragile X Syndrome Fragile X Syndrome - Pediatrics - MSD Manual Professional Edition Brought to you by The trusted provider of medical information since 1899 SEARCH SEARCH MEDICAL TOPICS Common Health Topics Resources QUIZZES & CASES Quizzes Cases The trusted provider of medical information since 1899 SEARCH SEARCH MEDICAL TOPICS Common Health Topics Resources QUIZZES & CASES Quizzes Cases / / / / IN THIS TOPIC OTHER TOPICS IN THIS CHAPTER Test your knowledge Cerebral Palsy (CP) Syndromes (...) news from journal articles, as... 3D Model Cystic Fibrosis: Defective Chloride Transport Video How to Catheterize the Urethra of a Male Infant or Small Child SOCIAL MEDIA Add to Any Platform Loading , MD, Sidney Kimmel Medical College at Thomas Jefferson University Click here for Patient Education NOTE: This is the Professional Version. CONSUMERS: Fragile X syndrome is a genetic abnormality on the X chromosome that leads to and behavioral disorders. Fragile X syndrome is the most common inherited

2013 Merck Manual (19th Edition)

96. An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor

is presently lactating or breast-feeding. Subject has other medical conditions that may cause or explain subject's tremor, such as but not limited to, Parkinson's disease, hyperthyroidism, pheochromocytoma, head trauma or cerebrovascular disease within 3 months prior to the onset of essential tremor; multiple sclerosis, polyneuropathy or family history of Fragile X syndrome. Subject taking medication(s) that might produce tremor or interfere with the evaluation of tremor, such as but not limited to: CNS (...) An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor An Efficacy/Safety Study of Perampanel for Reducing 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. An Efficacy/Safety

2015 Clinical Trials

97. 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 (...) Diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT: a clinical follow up study The [(123)I]ioflupane-a dopamine transporter radioligand-SPECT (DaT-SPECT) has proven to be useful in the differential diagnosis of tremor. Here, we investigate the diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT. Therefore, 30 patients with tremor and normal DaT-SPECT were followed up for 2 years. In 18 cases we were able to make a diagnosis. The residual 12

2014 Frontiers in aging neuroscience

98. Clinical Report--Health Supervision for Children With Fragile X Syndrome. Full Text available with Trip Pro

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

2011 Pediatrics

99. 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 (...) 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

2011 Neurology

100. Ataxia with Identified Genetic and Biochemical Defects (Overview)

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 (...) , coloboma, hepatic fibrosis) feature malformations in multiple organ systems. Inheritance patterns are usually autosomal recessive or X linked depending on the syndrome. In the case of Joubert syndrome, evidence for genetic heterogeneity exists. Currently, mutations in 9 different genes are known to be associated with a Joubert syndrome phenotype. Table 1. Nonprogressive Congenital Ataxias Disorder/Syndrome Phenotype* Inheritance NPCA with or without cerebellar hypoplasia Early hypotonia Delayed motor

2014 eMedicine.com

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