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 prio...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.展开更多
Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retard...Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting 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 clini cal signs correlated with a molecular pattern of X-inactivation favoring highe r expression of the premutation allele. In these women with a common genetic bac kground, we suggest that symptom severity may be dictated by X-inactivation, a nd thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.展开更多
文摘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.
文摘Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting 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 clini cal signs correlated with a molecular pattern of X-inactivation favoring highe r expression of the premutation allele. In these women with a common genetic bac kground, we suggest that symptom severity may be dictated by X-inactivation, a nd thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.
