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Fragile X-Associated Tremor-Ataxia Syndrome

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

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

202. 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

203. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Full Text available with Trip Pro

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 (...) this disorder. Brain tissue was available from one of the five subjects, a women who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the findings previously reported in males with FXTAS. The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often

2004 American Journal of Human Genetics

204. 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 (...) progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.Copyright (c) 2005 Movement Disorder Society.

2006 Movement Disorders

205. 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

206. 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

207. 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

2007 Movement Disorders

208. Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. Full Text available with Trip Pro

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

209. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Full Text available with Trip Pro

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

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

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

211. 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

212. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Full Text available with Trip Pro

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

213. 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 (...) proposed that FXTAS might be a common neurodegenerative disorder.To determine whether FXTAS accounts for patients currently diagnosed as having MSA or a related clinical diagnosis.Patients with MSA or related phenotypes were examined by experienced movement disorders neurologists, and DNA samples were obtained for genetic study.Salpêtrière Hospital.Seventy-seven patients clinically diagnosed as having MSA, 19 as having olivopontocerebellar atrophy, and 27 as having cerebellar ataxia.The number of FMR1

2005 Archives of Neurology

214. 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 (...) . Inclusion counts were compared with specific molecular (CGG repeat, FMR1 mRNA level) and clinical (age of onset, age of death) parameters. In the current series, the three most prominent neuropathological characteristics are (i) significant cerebral and cerebellar white matter disease, (ii) associated astrocytic pathology with dramatically enlarged inclusion-bearing astrocytes prominent in cerebral white matter and (iii) the presence of intranuclear inclusions in both brain and spinal cord. The pattern

2006 Brain

215. Fragile X-associated tremor/ataxia syndrome (FXTAS). Full Text available with Trip Pro

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 (...) 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

2004 Mental Retardation and Developmental disabilities Research Reviews

216. 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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