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Fragile X-Associated Tremor-Ataxia Syndrome

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61. 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

62. 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

63. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia Full Text available with Trip Pro

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia Mosaicism for FMR1 premutation (PM: 55-199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less severe fragile X syndrome (FXS) phenotype and fragile X associated tremor/ataxia syndrome (FXTAS)-a late onset neurodegenerative disorder. We describe a 38 year old male carrying a 100% methylated FM detected with Southern blot (SB), which is consistent with complete (...) silencing of FMR1 and a diagnosis of fragile X syndrome. However, his formal cognitive scores were not at the most severe end of the FXS phenotype and he displayed tremor and ataxic gait. With the association of UFM with FXTAS, we speculated that his ataxia might be related to an undetected proportion of UFM alleles. Such UFM alleles were confirmed by more sensitive PCR based methylation testing showing FM methylation between 60% and 70% in blood, buccal, and saliva samples and real-time PCR analysis

2016 Genes

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. 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

67. 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

68. 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

69. 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

70. 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 (...) compared to controls. Central sensitivity syndromes, a neuroticism profile on the NEO Personality Profile, and sleep disorders were also prevalent. Discrepancies between subject report and examination findings were also seen. This pilot study suggests that women with the FMR1 premutation may have a phenotype that overlaps with that seen in FXTAS. Additional research with larger sample sizes is warranted to better delineate the clinical features.© 2015 John Wiley & Sons A/S. Published by John Wiley

2015 Clinical Genetics

71. Improving Fragile X–Associated Tremor/Ataxia Syndrome Symptoms With Memantine and Venlafaxine Full Text available with Trip Pro

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

2010 Journal of Clinical Psychopharmacology

72. 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

73. Interventions Targeting Sensory Challenges in Children with Autism Spectrum Disorder - An Update

and cerebellum of three older men with fragile X syndrome. Mol Autism. 2011;2(1):2. doi: 10.1186/2040-2392-2-2. PMID: 21303513.X-1 653. Greer RD, Pistoljevic N, Cahill C, et al. Effects of conditioning voices as reinforcers for listener responses on rate of learning, awareness, and preferences for listening to stories in preschoolers with autism. Anal Verbal Behav. 2011;27(1):103- 24. PMID: 22532758.X-1, X-3, X-4 D-56 654. Griffith GM, Hastings RP, Oliver C, et al. Psychological well-being in parents (...) Article.X-1 662. Hameury L, Delavous P, Leroy C. [Hippotherapy in the paedopsychiatric care project]. Soins Pediatr Pueric. 2011 Jan- Feb(258):37-40. PMID: 21328838.X-1, X-3 663. Hamilton A, Marshal MP, Murray PJ. Autism spectrum disorders and menstruation. J Adolesc Health. 2011 Oct;49(4):443-5. doi: 10.1016/j.jadohealth.2011.01.015. PMID: 21939879.X-1 664. Hampson DR, Adusei DC, Pacey LK. The neurochemical basis for the treatment of autism spectrum disorders and Fragile X Syndrome. Biochem Pharmacol

2017 Effective Health Care Program (AHRQ)

74. Carrier Screening for Genetic Conditions

identified individuals with intermediate results and carriers of a fragile X premutation or full mutation should be provided follow-up genetic counseling to discuss the risk to their offspring of inheriting an expanded full-mutation fragile X allele and to discuss fragile X-associated disorders (premature ovarian insufficiency and fragile X tremor/ataxia syndrome). Prenatal Diagnostic Testing Prenatal diagnostic testing for fragile X syndrome should be offered to known carriers of the fragile X (...) of the fragile X CGG repeat in females with premutation or intermediate alleles. with permission from Elsevier and data from Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. . A person with 55–200 repeats does not have features associated with fragile X syndrome but is at increased risk of fragile X-associated tremor/ataxia syndrome (also known as FXTAS) and FMR1 -related premature ovarian failure. When more than 200 repeats

2017 American College of Obstetricians and Gynecologists

75. 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

76. 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

77. 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

2014 Human molecular genetics

78. 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 (...) attention in an endogenous cueing task that manipulated the amount of information in the cue.In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs.Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation

2014 Journal of neurodevelopmental disorders

79. 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 (...) ). Study of these diseases has been limited by an inability to sequence expanded CGG repeats, particularly in the full mutation range, with existing DNA sequencing technologies. Single-molecule, real-time (SMRT) sequencing provides an approach to sequencing that is fundamentally different from other "next-generation" sequencing platforms, and is well suited for long, repetitive DNA sequences. We report the first sequence data for expanded CGG-repeat FMR1 alleles in the full mutation range that reveal

2013 Genome Research

80. 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

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