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Fragile X-Associated Tremor-Ataxia Syndrome

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401. Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome

Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome - 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. Memantine Treatment (...) in Fragile X-Associated Tremor/Ataxia Syndrome The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT00584948 Recruitment Status : Completed First Posted : January 2, 2008 Results First Posted : April 10, 2017 Last Update Posted : May 30, 2017 Sponsor: University of California, Davis Collaborators: National

2007 Clinical Trials

402. Fragile X-associated tremor/ataxia syndrome (FXTAS). (PubMed)

Fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, and autonomic dysfunction. In excess of one-third (...) of male premutation carriers over 50 years of age develop the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS also represents a new form of inclusion disease, with eosinophilic intranuclear inclusions found throughout the brain in both neurons and astrocytes. Because FXTAS appears to be relatively specific to male premutation carriers, who are known to possess elevated levels of FMR1 mRNA, the neuropathology may arise as a consequence of a toxic gain-of-function of the mRNA itself, although

2004 Mental Retardation and Developmental disabilities Research Reviews

403. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). (PubMed)

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of a premutation expansion (55 to 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.Volumetric MRI studies, clinical staging, cognitive testing, and molecular analysis were conducted in 15 female premutation carriers affected by FXTAS (age 59.5 (...) sign) in females affected by FXTAS (13%) compared with affected males (58%). We found reduced brain volumes and increased white matter disease associated with the presence of FXTAS in females compared with female controls. We also observed significant associations between reduced cerebellar volume and both increased severity of FXTAS symptoms and increased length of the CGG repeat expansion in male premutation carriers, but not in females.Females affected by fragile X-associated tremor/ataxia

2007 Neurology

404. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. (PubMed)

Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. We describe the medical course, neuropathology and testicular pathology in 2 men who died with fragile X associated tremor/ataxia syndrome. Fragile X associated tremor/ataxia syndrome, which is a recently described, late onset neurodegenerative disorder, affects up to a third of males and occasionally females older than age 50 years who are carriers of premutation alleles (55 to 200 CGG repeats (...) eosinophilic intranuclear inclusions in neurons and astrocytes throughout the central nervous system, and in the anterior and posterior pituitary gland of 1 of the 2 men. Inclusions were also seen in the Leydig and myoid cells in the testicles of these 2 men with fragile X associated tremor/ataxia syndrome.Fragile X associated tremor/ataxia syndrome inclusions are formed in tissues outside of the central nervous system. Involvement of the testicles and the pituitary gland may lead to neuroendocrine

2007 Journal of Urology

405. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. (PubMed)

Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. To assess changes in regional brain volumes associated with the fragile X-associated tremor/ataxia syndrome (FXTAS) and the molecular correlates of these changes.We administered molecular, MRI, and neurocognitive tests to 36 male premutation carriers (ages 51 to 79), 25 affected and 11 unaffected with FXTAS, and to 21 control subjects of similar age and education.We found differences among the three groups (...) hyperintensity.The current findings, coupled with recent evidence linking the degree of neuropathology (numbers of intranuclear inclusions) to the size of the premutation allele, provide evidence that the neurodegenerative phenotype in the fragile X-associated tremor/ataxia syndrome is a consequence of the CGG repeat expansion.

2006 Neurology

406. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. (PubMed)

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

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

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

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

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

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

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

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

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

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

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

412. Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (PubMed)

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

413. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (PubMed)

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

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2006 Brain

414. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. (PubMed)

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from

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2004 American Journal of Human Genetics

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

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

416. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome (PubMed)

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

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2004 Journal of Medical Genetics

417. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (PubMed)

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

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2005 Archives of Neurology

418. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. (PubMed)

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.

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2005 Annals of Neurology

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

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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