Cases reported "Fragile X Syndrome"

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1/13. intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

    The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger rna and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger rna may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.
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keywords = tremor
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2/13. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.

    A neurological syndrome involving progressive action tremor with ataxia, cognitive decline and generalized brain atrophy has been described recently in some adult males with pre-mutation alleles of the fragile x syndrome (FXS) fragile X mental retardation gene (FMR1). Neurohistological studies have now been performed on the brains of four elderly premutation carriers, not reported previously, who displayed the neurological phenotype. Eosinophilic, intranuclear inclusions were present in both neuronal and astrocytic nuclei of the cortex in all four individuals. Systematic analysis of the brains of two of these carriers demonstrated the presence of the intranuclear inclusions throughout the cerebrum and brainstem, being most numerous in the hippocampal formation. The cerebellum displayed marked dropout of purkinje cells, Purkinje axonal torpedoes and Bergmann gliosis. Intranuclear inclusions were absent from purkinje cells, although they were present in a small number of neurones in the dentate nucleus and diffusely in cerebellar astrocytes. The presence of inclusions in the brains of all four FXS carriers with the neurological findings provides further support for a unique clinical entity associated with pre-mutation FMR1 alleles. The origin of the inclusions is unknown, although elevated FMR1 mRNA levels in these pre-mutation carriers may lead to the neuropathological changes.
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keywords = tremor
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3/13. The fragile X premutation presenting as essential tremor.

    CONTEXT: The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits. OBJECTIVE: To describe 2 fragile X carriers whose clinical presentation mimicked essential tremor. DESIGN: The 2 patients described herein underwent neurologic examinations by experienced movement disorders neurologists, magnetic resonance imaging, and fragile X gene, messenger rna, and protein analyses. One underwent detailed neuropsychological testing. SETTING: patients were studied at 2 large university movement disorders clinics. patients: Both patients were white men older than 50 years who had been diagnosed as having essential tremor and then found to be fragile X carriers. RESULTS: Besides disabling intention tremor, the 2 patients had impaired tandem, generalized brain atrophy, and unusual bilateral T2 middle cerebellar hyperintensities on magnetic resonance imaging. The patient who underwent neuropsychological testing had frontal executive deficits. Both patients had elevated fragile X mental retardation gene 1 messenger rna and reduced fragile X mental retardation 1 protein levels. CONCLUSION: The fragile X carrier state may underlie the clinical findings in some older men diagnosed as having essential tremor.
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ranking = 5.8302018028135
keywords = intention tremor, tremor, intention
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4/13. 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 than their male counterparts.
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ranking = 1.2
keywords = tremor
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5/13. Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

    Recently, Hagerman et al described the occurrence of a late-onset neurological disorder in five male carriers of the fragile-X (FMR-1) premutation. The major characteristics of this disorder, designated the Fragile-X Tremor Ataxia Syndrome (FXTAS), are progressive intention tremor, cerebellar ataxia and cognitive decline. Most cases of FXTAS published thus far were ascertained through families with a known fragile-X proband. Since cerebellar ataxia is one of the main cardinal features, we performed FMR-1 premutation screening in 122 male patients, older than 50 years, who were referred to us for testing of the spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) genes and who were found to be negative. In this group of patients, we found five patients with an FMR-1 premutation. In four of them, a definite diagnosis of FXTAS could be made, based on the proposed diagnostic clinical and radiological criteria for FXTAS. In light of these figures, we recommend that FMR-1 analysis should be included in the molecular diagnostic work-up in the group of male ataxia patients older than 50 years.
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ranking = 2.0151009014067
keywords = intention tremor, tremor, intention
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6/13. 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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ranking = 1.2
keywords = tremor
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7/13. Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome.

    The fragile X premutation tremor/ataxia syndrome (FXTAS) is a recently described adult-onset neurodegenerative disorder, in which ataxia, tremor, cognitive decline, parkinsonism, neuropathy and autonomic dysfunction occur in various combinations. It is reported to display a characteristic MRI appearance, with increased T2 signal in the middle cerebellar peduncles and around the dentate nuclei. Diagnostic criteria have been proposed on the basis of these clinical and radiological features, presupposing that a CGG expansion has been demonstrated. We present three cases in which MRI and clinical findings suggested the possibility of FXTAS, although only one was confirmed on genetic testing. The phenotypic overlap with multiple system atrophy of cerebellar type (MSA-C) and the importance of genetic confirmation are emphasised.
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keywords = tremor
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8/13. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

    BACKGROUND: 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. OBJECTIVE: To determine whether FXTAS accounts for patients currently diagnosed as having MSA or a related clinical diagnosis. DESIGN: patients with MSA or related phenotypes were examined by experienced movement disorders neurologists, and dna samples were obtained for genetic study. SETTING: Salpetriere Hospital. patients: Seventy-seven patients clinically diagnosed as having MSA, 19 as having olivopontocerebellar atrophy, and 27 as having cerebellar ataxia. MAIN OUTCOME MEASURE: The number of FMR1 repeats was determined in all patients by polymerase chain reaction. alleles above 40 CGG repeats were controlled by Southern blot analysis. RESULTS: 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. CONCLUSIONS: We confirm the recent initial description of FXTAS in women. Our data suggest that FXTAS is rare in MSA and indicate that FXTAS might be less prevalent than proposed.
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ranking = 3.0151009014067
keywords = intention tremor, tremor, intention
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9/13. 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 testing for FXTAS.
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ranking = 1.2
keywords = tremor
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10/13. 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.
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ranking = 1.4
keywords = tremor
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