New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
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DOI：
10.3389/fgene.2014.00365
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发表时间：
2014
影响因子：
3.7
通讯作者：
Hall DA
中科院分区：
文献类型：
--
作者：
Fraint A;Vittal P;Szewka A;Bernard B;Berry-Kravis E;Hall DA
目的：脆性 X 相关震颤/共济失调综合征 (FXTAS) 最初被定义为在脆性 X 智力低下 1 (FMR1) 基因启动子区域携带 55 至 200 个 CGG 重复序列的个体的震颤、共济失调、认知能力下降和帕金森病。本文描述了 2009 年至 2014 年间就诊的一系列符合 FXTAS 定义的患者。方法/结果：对芝加哥拉什大学 FXTAS 诊所就诊的患者进行回顾性图表审查。结论：FXTAS 患者可能出现进行性核上性麻痹样表型，其他眼球运动异常在这些患者中也很常见。 FXTAS 步态异常的迅速恶化可能是由于继发性脊柱问题所致，应积极治疗以恢复功能。最后，FXTAS 评定量表评分并不能可靠地告知这些患者的诊断确定性或 CGG 重复大小。
Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline, and parkinsonism in individuals who carry between 55 and 200 CGG repeats in the promoter region of the fragile X mental retardation 1 (FMR1) gene. This paper describes a series of patients who meet the definition of FXTAS who presented for care between 2009 and 2014. Methods/Results: Retrospective chart review of patients seen in the FXTAS clinic at Rush University in Chicago. Conclusions: Patients with FXTAS may present with a progressive supranuclear palsy-like phenotype and other eye movement abnormalities are common in these patients as well. Rapid worsening of gait abnormalities in FXTAS may be due to a secondary spinal issue and should be aggressively treated to regain function. Finally, the FXTAS Rating Scale score does not reliably inform the certainty of diagnosis or CGG repeat size in these patients.