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Fragile X-Associated Tremor-Ataxia Syndrome

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421. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. (Abstract)

Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. There is no established treatment for the neurological features of the recently discovered fragile X-associated tremor/ataxia syndrome (FXTAS). Fifty-six patients with FXTAS completed a questionnaire to determine whether any medications had been effective for neurological symptoms. Of 11 subjects with definite FXTAS, 8 (70%) were on medications for their neurological symptoms, whereas most subjects with possible (...) or probable FXTAS, 31 (70%) of 45 subjects, were not on medications. Although no therapy was uniformly effective for intention tremor, ataxia, Parkinsonism, memory loss, or anxiety, some subjects with intention tremor or Parkinsonism reported improvement with medications frequently used in other movement disorders. Overall, all 22 subjects on medications reported improvement in one or more symptoms. Lack of insight, recall bias, and cognitive impairment may have resulted in an underestimation

2006 Movement Disorders

422. Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. (Abstract)

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive (...) measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.

2007 Movement Disorders

423. Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. (Abstract)

Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic (...) criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age.

2007 Movement Disorders

424. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). (Abstract)

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic

2005 Neurology

425. Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (Abstract)

Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease

2006 Movement Disorders

426. Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: A new female case. (Abstract)

Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: A new female case. 17516494 2007 11 28 2007 09 05 0885-3185 22 11 2007 Aug 15 Movement disorders : official journal of the Movement Disorder Society Mov. Disord. Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case. 1677-8 Horvath Judit J Burkhard Pierre R PR Morris Michael M Bottani Armand A Moix Isabelle I Delavelle Jacqueline J eng Case Reports Letter United States Mov Disord 8610688 (...) 0885-3185 0 FMR1 protein, human 139135-51-6 Fragile X Mental Retardation Protein IM Aged Ataxia etiology genetics pathology Female Fragile X Mental Retardation Protein genetics Fragile X Syndrome complications genetics Humans Magnetic Resonance Imaging Mutation genetics Phenotype Tremor etiology genetics pathology 2007 5 23 9 0 2007 12 6 9 0 2007 5 23 9 0 ppublish 17516494 10.1002/mds.21571

2007 Movement Disorders

427. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. (Abstract)

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign (...) fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under-diagnosed, FXTAS is likely to be one of the most common single-gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also

2007 Movement Disorders

428. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Full Text available with Trip Pro

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects carriers, principally males, of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Clinical features of FXTAS include progressive intention tremor and gait ataxia, accompanied by characteristic white matter abnormalities on MRI. The neuropathological hallmark of FXTAS (...) is an intranuclear inclusion, present in both neurons and astrocytes throughout the CNS. Prior to the current work, the nature of the associations between inclusion loads and molecular measures (e.g. CGG repeat) was not defined. Post-mortem brain and spinal cord tissue has been examined for gross and microscopic pathology in a series of 11 FXTAS cases (males, age 67-87 years at the time of death). Quantitative counts of inclusion numbers were performed in various brain regions in both neurons and astrocytes

2006 Brain

429. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. (Abstract)

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with the fragile X mental retardation 1 (FMR1) premutation allele who have developed fragile X-associated tremor/ataxia syndrome (FXTAS).Fourteen male carriers of the FMR1 premutation who had clinical manifestations of the FXTAS syndrome and 14 age- and education (...) on the NPI.The neuropsychiatric manifestations of FXTAS, based on this preliminary report, appear to cluster as a fronto-subcortical dementia. Clinicians encountering patients with clinical dementia with motor symptoms suggesting FXTAS should consider genetic testing to determine whether the patient's dementia syndrome is secondary to a fragile X premutation carrier status.

2006 Journal of Clinical Psychiatry

430. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome Full Text available with Trip Pro

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome 15060119 2004 05 07 2016 10 19 1468-6244 41 4 2004 Apr Journal of medical genetics J. Med. Genet. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. e43 Tassone F F Hagerman R J RJ Garcia-Arocena D D Khandjian E W EW Greco C M CM Hagerman P J PJ eng HD 40661 HD NICHD NIH HHS United States Letter Research Support, Non-U.S (...) . Gov't Research Support, U.S. Gov't, P.H.S. England J Med Genet 2985087R 0022-2593 0 FMR1 protein, human 0 Nerve Tissue Proteins 0 RNA, Messenger 0 RNA-Binding Proteins 139135-51-6 Fragile X Mental Retardation Protein IM Aged Alleles Astrocytes ultrastructure Ataxia genetics pathology Brain cytology ultrastructure Fragile X Mental Retardation Protein Fragile X Syndrome genetics ultrastructure Humans Intranuclear Inclusion Bodies ultrastructure Male Mutation Nerve Tissue Proteins genetics metabolism

2004 Journal of Medical Genetics

431. Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome Full Text available with Trip Pro

Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome The human FMR1 gene contains an unstable CGG-repeat in its 5' untranslated region. The repeat length in the normal population is polymorphic (5-54 CGG-repeats). Individuals carrying lengths beyond 200 CGGs (i.e. the full mutation) show hypermethylation and as a consequence gene silencing of the FMR1 gene. The absence of the gene product FMRP causes (...) the fragile X syndrome, the most common inherited form of mental retardation. Elderly carriers of the premutation (PM), which is defined as a repeat length between 55 and 200 CGGs, can develop a progressive neurodegenerative syndrome: fragile X-associated tremor/ataxia syndrome (FXTAS). The high FMR1 mRNA levels observed in cells from PM carriers have led to the hypothesis that FXTAS is caused by a pathogenic RNA gain-of-function mechanism. Apart from tremor/ataxia, specific psychiatric symptoms have been

2008 Psychoneuroendocrinology

432. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. (Abstract)

Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late-onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers. We compared tremor, gait disorder and parkinsonian signs in FXS premutation subjects (age 50 or more) and a similar control population, using a standardized videotaping protocol. Videotapes were rated using standard scales (...) ataxia, respectively. The female carrier (n = 14) and control groups (n = 8) did not differ on any measure. The FMR1 premutation is associated with increased levels of CGG repeat-containing FMR1 mRNA, which may predispose to these symptoms by interfering with nuclear mechanisms. Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late-onset "idiopathic" progressive tremor.

2003 Annals of Neurology

433. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Full Text available with Trip Pro

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Fragile X-associated tremor/ataxia syndrome (FXTAS), a novel disorder in male carriers of premutations of the fragile X mental retardation 1 gene (FMR1), was recently described. The clinical presentation of FXTAS most closely resembles multiple system atrophy (MSA) because both disorders manifest with cerebellar ataxia, intention tremor, autonomic dysfunction, and parkinsonism. It has been (...) repeats was determined in all patients by polymerase chain reaction. Alleles above 40 CGG repeats were controlled by Southern blot analysis.Two patients carried FMR1 premutations of 110 and 135 repeats: a man with a familial form of cerebellar ataxia and a woman diagnosed as having MSA-cerebellar type. In addition, 9 patients (7%) carried alleles in the intermediate size range, from 41 to 53 repeats.We confirm the recent initial description of FXTAS in women. Our data suggest that FXTAS is rare in MSA

2005 Archives of Neurology

434. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Full Text available with Trip Pro

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition consisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retardation 1 premutation. In this report, we present premutation carrier sisters in whom severity of clinical signs correlated with a molecular pattern of X-inactivation favoring higher expression (...) of the premutation allele. In these women with a common genetic background, we suggest that symptom severity may be dictated by X-inactivation, and thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.

2005 Annals of Neurology

435. Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome. (Abstract)

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome. Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with brain atrophy in males of normal intelligence and the pre-mutation carrier state of the fragile X syndrome. We have shown, by means of a telephone survey, that this association is probably causal rather than coincidental. These findings have uncovered another testable cause of late-onset (...) neurological symptoms in males, which also has serious genetic implications for their daughters who are at risk of having sons with full mutations causing mental handicap - the fragile X syndrome.

2003 Clinical Genetics

436. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Full Text available with Trip Pro

mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders. (...) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive

2003 American Journal of Human Genetics

437. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (Abstract)

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Recent advances in our understanding of the clinical and molecular features of the fragile-X mental-retardation 1 gene, FMR1, highlight the importance of single-gene disorders. 15 years after its discovery, FMR1 continues to reveal new and unexpected clinical presentations and molecular mechanisms. Loss of function of FMR1 is a model for neurodevelopmental and behavioural disorders, including mental (...) retardation, autism, anxiety, and mood instability. In addition, overexpression and CNS toxicity of FMR1 mRNA causes a late-onset neurodegenerative disorder, the fragile-X-associated tremor/ataxia syndrome (FXTAS). A similar mechanism is probably involved in premature ovarian failure, which affects up to 20% of female carriers of an altered FMR1 gene.

2007 Lancet Neurology

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