Department of Neurology, University of California Davis, Sacramento, CA, USA; Center for Mind and Brain, University of California Davis, Davis, CA, USA.
Department of Neurology, University of California Davis, Sacramento, CA, USA; Center for Mind and Brain, University of California Davis, Davis, CA, USA.
Parkinsonism Relat Disord. 2014 Apr;20(4):456-9. doi: 10.1016/j.parkreldis.2014.01.006. Epub 2014 Jan 18.
Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor/ataxia syndrome (FXTAS). However, prior studies have examined parkinsonism (defined as having bradykinesia with at least rest tremor or postural instability) mostly in premutation carriers without a diagnosis of FXTAS. The current study was intended to elaborate this important aspect of the FXTAS spectrum, and to quantify the relationships between parkinsonism, FXTAS clinical staging and genetic/molecular measures.
Thirty eight (38) FXTAS patients and 10 age-matched normal controls underwent a detailed neurological examination that included all but one item (i.e. rigidity) of the motor section of the Unified Parkinson's Disease Rating Scale (UPDRS).
The FXTAS patient group displayed substantially higher prevalence of parkinsonian features including body bradykinesia (57%) and rest tremor (26%), compared to the control group. Furthermore, parkinsonism was identified in 29% of FXTAS patients. Across all patients, body bradykinesia scores significantly correlated with FXTAS clinical stage, FMR1 mRNA level, and ataxic gait of cerebellar origin, while postural instability was associated with intention tremor.
Parkinsonian features in FXTAS appear to be characterized as bradykinesia concurrent with cerebellar gait ataxia, postural instability accompanied by intention tremor, and frequent rest tremor, representing distinctive patterns that highlight the need for further clinical studies including genetic testing for the FMR1 premutation. The association between FMR1 mRNA level and bradykinesia implicates pathophysiological mechanisms which may link FMR1 mRNA toxicity, dopamine deficiency and parkinsonism in FXTAS.
帕金森病特征已被用作脆性 X 相关震颤/共济失调综合征（FXTAS）的次要诊断标准。然而，先前的研究主要在没有 FXTAS 诊断的前突变携带者中检查了帕金森病（定义为具有运动迟缓，至少有静止性震颤或姿势不稳）。本研究旨在阐述 FXTAS 谱的这一重要方面，并量化帕金森病、FXTAS 临床分期和遗传/分子测量之间的关系。
38 名 FXTAS 患者和 10 名年龄匹配的正常对照者接受了详细的神经系统检查，包括统一帕金森病评定量表（UPDRS）运动部分的除一项（即僵硬）以外的所有项目。
与对照组相比，FXTAS 患者组表现出更高的帕金森病特征患病率，包括身体运动迟缓（57%）和静止性震颤（26%）。此外，29%的 FXTAS 患者被诊断为帕金森病。在所有患者中，身体运动迟缓评分与 FXTAS 临床分期、FMR1 mRNA 水平和小脑起源的共济失调步态显著相关，而姿势不稳与意向性震颤相关。
FXTAS 中的帕金森病特征似乎表现为运动迟缓伴小脑共济失调步态、姿势不稳伴意向性震颤、频繁的静止性震颤，这些特征代表了独特的模式，突出了进一步进行临床研究的必要性，包括 FMR1 前突变的基因检测。FMR1 mRNA 水平与运动迟缓的相关性提示了可能与 FXTAS 中 FMR1 mRNA 毒性、多巴胺缺乏和帕金森病相关的病理生理机制。
