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Fragile X-Associated Tremor-Ataxia Syndrome

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61. Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency Full Text available with Trip Pro

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency 21540884 2012 01 03 2018 11 13 1476-5438 19 9 2011 Sep European journal of human genetics : EJHG Eur. J. Hum. Genet. Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. 10.1038/ejhg.2011.55 Jacquemont Sebastien (...) S Service de génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. Birnbaum Stefanie S Redler Silke S Steinbach Peter P Biancalana Valérie V eng Journal Article Research Support, Non-U.S. Gov't 2011 05 04 England Eur J Hum Genet 9302235 1018-4813 0 FMR1 protein, human 139135-51-6 Fragile X Mental Retardation Protein IM Ataxia diagnosis genetics Female Fragile X Mental Retardation Protein genetics Fragile X Syndrome diagnosis genetics Humans Male Primary Ovarian

2011 European Journal of Human Genetics

62. X-inactivation in the clinical phenotype of fragile X premutation carrier sisters Full Text available with Trip Pro

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters The purpose of this study is to describe a case series of 4 sisters with discordant clinical phenotypes associated with fragile X-associated tremor/ataxia syndrome (FXTAS) that may be explained by varying CGG repeat sizes and activation ratios (ARs) (the ratio of cells carrying the normal fragile X mental retardation 1 [FMR1] allele on the active X chromosome).Four sisters with premutation size FMR1 gene repeats

2016 Neurology: Genetics

63. Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency Full Text available with Trip Pro

, reduction in age of menopause, infertility, dizygotic twinning, and risk of having an offspring with a premutation or full mutation. Consequent chronic hypoestrogenism may result in impaired bone health and increased cardiovascular risk. Neuropsychiatric issues include risk of developing fragile X-associated tremor/ataxia syndrome, neuropathy, musculoskeletal problems, increased prevalence of anxiety, depression, and sleep disturbances independent of the stress of raising an offspring with fragile X (...) Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Women with this premutation face many physical and emotional challenges in their life. Approximately 20% of these women will develop fragile X-associated primary ovarian insufficiency (FXPOI). In addition, they suffer from increased rates of menstrual dysfunction, diminished ovarian reserve

2016 Journal of assisted reproduction and genetics

64. Clinically Significant Psychiatric Symptoms among Male Carriers of the Fragile X Premutation, with and without FXTAS, and the Mediating Influence of Executive Functioning Full Text available with Trip Pro

Clinically Significant Psychiatric Symptoms among Male Carriers of the Fragile X Premutation, with and without FXTAS, and the Mediating Influence of Executive Functioning To clarify the neuropsychiatric phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS), and assess the extent to which it is mediated by the dysexecutive syndrome that is a major feature of the disorder.We examined the prevalence of clinically meaningful psychiatric symptoms among male carriers of the fragile X (...) premutation, with and without FXTAS, in comparison with men with a normal allele. Measures included the Neuropsychiatric Inventory (NPI), Symptom Checklist-90-R (SCL-90-R), and the Behavioral Dyscontrol Scale, a measure of executive functioning. Between-group differences were evaluated using logistic regression, followed by a mediation analysis with ordinary least squares regression to assess the contribution of dysexecutive syndrome to the observed psychiatric domains.Men with FXTAS showed higher rates

2016 The Clinical neuropsychologist

65. The Fragile X Mental Retardation 1 Gene (FMR1): Historical Perspective, Phenotypes, Mechanism, Pathology, and Epidemiology Full Text available with Trip Pro

The Fragile X Mental Retardation 1 Gene (FMR1): Historical Perspective, Phenotypes, Mechanism, Pathology, and Epidemiology To provide an historical perspective and overview of the phenotypes, mechanism, pathology, and epidemiology of the fragile X-associated tremor/ataxia syndrome (FXTAS) for neuropsychologists.Selective review of the literature on FXTAS.FXTAS is an X-linked neurodegenerative disorder of late onset. One of several phenotypes associated with different mutations of the fragile X (...) mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and impaired executive functioning, among other features. It affects carriers of the FMR1 premutation, which may expand when passed from a mother to her children, in which case it is likely to cause fragile X syndrome (FXS), the most common inherited developmental disability.This review briefly summarizes current knowledge of the mechanisms, epidemiology, and mode of transmission of FXTAS and FXS, as well

2016 The Clinical neuropsychologist

66. Three Faces of Fragile X. Full Text available with Trip Pro

Three Faces of Fragile X. Fragile X syndrome (FXS) is the first of 3 syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other 2 syndromes are fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which together are referred to as fragile X-associated disorders (FXDs). Collectively, this group comprises the 3 faces of fragile X. Even though the 3 conditions share (...) a common genetic defect, each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains, and, for FXTAS, a late-onset neurodegeneration. Although each FXD condition may benefit from physical therapy intervention, available evidence as to the efficacy of intervention appropriate to FXDs is lacking. This perspective article

2016 Physical therapy

67. Fragile X Syndrome (Overview)

syndrome testing should be considered for women with premature ovarian failure, for older adults with ataxia or tremor that could be associated with fragile X-associated tremor/ataxia syndrome (FXTAS), and in children with autism, autism-spectrum disorder, or mental retardation. Some states are considering adding fragile X syndrome to their newborn screening programs. Public awareness about fragile X syndrome is increasing thanks to media attention, including an article in Time Magazine on June 26 (...) systems. Fragile X-associated tremor ataxia syndrome (FXTAS) has been reported in 33-46% of men older than 50 years and, less frequently (4-8%), in older women with premutations in the fragile X mental retardation ( FMR1 ) gene. Full mutations of this gene result in fragile X syndrome. Clinical features of FXTAS include incontinence, impotence, cerebellar ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic hypotension, severe intention tremor, and other signs of neurodegeneration

2014 eMedicine Pediatrics

68. Fragile X Syndrome (Diagnosis)

syndrome testing should be considered for women with premature ovarian failure, for older adults with ataxia or tremor that could be associated with fragile X-associated tremor/ataxia syndrome (FXTAS), and in children with autism, autism-spectrum disorder, or mental retardation. Some states are considering adding fragile X syndrome to their newborn screening programs. Public awareness about fragile X syndrome is increasing thanks to media attention, including an article in Time Magazine on June 26 (...) systems. Fragile X-associated tremor ataxia syndrome (FXTAS) has been reported in 33-46% of men older than 50 years and, less frequently (4-8%), in older women with premutations in the fragile X mental retardation ( FMR1 ) gene. Full mutations of this gene result in fragile X syndrome. Clinical features of FXTAS include incontinence, impotence, cerebellar ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic hypotension, severe intention tremor, and other signs of neurodegeneration

2014 eMedicine Pediatrics

69. Neurological and Endocrine Phenotypes of Fragile X Carrier Women. Full Text available with Trip Pro

for molecular measures. Scales for movement disorders, neuropathy, cognitive function, psychiatric symptoms, sleep, and quality of life were completed. The average age of the women was 51 years (n = 46) and average CGG repeat size was 91 ± 24.9 in the FMR1 PMC women. Seventy percent of the PMC women had an abnormal neurological examination. PMC women had significantly higher scores on the Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) rating scale, more neuropathy, and difficulty with tandem gait (...) Neurological and Endocrine Phenotypes of Fragile X Carrier Women. Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and evaluated by a neurologist, neuropsychologist, and endocrinologist. Blood and skin biopsies were collected

2015 Clinical Genetics

70. Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders Full Text available with Trip Pro

for the proper translation of dendritic mRNAs in response to synaptic activation. There are two different pathological FMR1 allele classes that are distinguished only by the number of repeats. Premutation alleles have 55-200 repeats and confer risk of fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Full mutation alleles on the other hand have >200 repeats and result in fragile X syndrome, a disorder that affects learning and behavior. Different symptoms (...) Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders The fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus. The repeat responsible for disease pathology in the fragile X-related disorders is CGG/CCG and the repeat tract is located in the 5' UTR of the FMR1 gene, whose protein product FMRP, is important

2015 Frontiers in genetics

71. Fragile X premutation carriers: A systematic review of neuroimaging findings. Full Text available with Trip Pro

Fragile X premutation carriers: A systematic review of neuroimaging findings. Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the fragile X premutation may develop a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). Recent evidence suggests that premutation carriers experience other psychiatric difficulties throughout their lifespan.Medline, EMBASE (...) tasks in multiple regions.This systematic review may have been limited by the search for articles on just 3 scientific databases. Differing techniques and methods of analyses between research groups and primary research articles may have caused differences in results between studies.Current MRI studies into the fragile X premutation have been important in the diagnosis of FXTAS and identifying potential pathophysiological mechanisms. Associations with blood based measures have also demonstrated

2015 Journal of the neurological sciences

72. Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome Full Text available with Trip Pro

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome The CGG repeats are present in the 5'-untranslated region (5'-UTR) of the fragile X mental retardation gene FMR1 and are associated with two diseases: fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X syndrome (FXS). FXTAS occurs when the number of repeats is 55-200 and FXS develops when the number exceeds 200. FXTAS is an RNA-mediated disease in which the expanded CGG tracts

2011 Nucleic acids research

73. A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Full Text available with Trip Pro

A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder that primarily affects older male premutation carriers of the fragile X mental retardation gene. Although its core symptoms are mainly characterized by motor problems such as intention tremor and gait ataxia, cognitive decline and psychiatric problems are also commonly observed. Past radiological and histological (...) tremor/ataxia syndrome. In a comparison with healthy controls, we found striking grey matter loss of the patients with fragile X-associated tremor/ataxia syndrome in multiple regions over the cortical and subcortical structures. In the cerebellum, the anterior lobe and the superior posterior lobe were profoundly reduced in both vermis and hemispheres. In the cerebral cortex, clusters of highly significant grey matter reduction were found in the extended areas in the medial surface of the brain

2011 Brain

74. Fragile X-Associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Full Text available with Trip Pro

Fragile X-Associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not been reported in carriers of gray zone (45-54 CGG repeats) expansions.We describe 3 patients with FMR1 gray zone alleles who meet

2011 Movement Disorders

75. Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome Full Text available with Trip Pro

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome We report the clinical presentation and laboratory findings of a 69-year-old man with fragile X-associated tremor ataxia syndrome (FXTAS), a progressive neurodegenerative disorder, who was noted to have monoclonal gammopathy of undetermined significance (MGUS), a plasma cell proliferative disorder and a precursor disease of multiple myeloma. Both MGUS and FXTAS are associated (...) with microRNA (miRNA) dysregulation. We speculate that individuals with FXTAS may be predisposed to MGUS and further studies are warranted regarding this association.

2011 Case Reports in Genetics

76. Fxtas In An Unmethylated Mosaic Male With Fragile X Syndrome From Chile. Full Text available with Trip Pro

Fxtas In An Unmethylated Mosaic Male With Fragile X Syndrome From Chile. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated

2013 Clinical Genetics

77. 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

78. TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME Full Text available with Trip Pro

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

2012 Research in Autism Spectrum Disorders

79. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. (Abstract)

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. The Fragile X syndrome is caused by a CGG repeat expansion >200 in the promoter of the Fragile X mental retardation 1 (FMR1) gene termed full mutation (FM). These alleles are silenced through methylation of the FMR1 promoter, leading to deficit of the FMR1 protein (FMRP), and neurodevelopmental changes. However, occasional FM individuals have a complete lack of methylation, and those (...) typically have only minor deficit of FMRP levels compared with normal controls and their intelligence may be in the normal range. FM alleles are generated through expansion of the CGG repeat from the premutation (PM) range of 55-200 repeats, linked to the late onset Fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder has been attributed to a 'toxicity' of the FMR1 mRNA, which is significantly elevated in male carriers of PM alleles and of unmethylated FM alleles. This is the first report

2011 Clinical Genetics

80. 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 (...) 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

2017 Tremor and Other Hyperkinetic Movements

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