Hall Deborah A, Howard Katherine, Hagerman Randi, Leehey Maureen A
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA.
Parkinsonism Relat Disord. 2009 Feb;15(2):156-9. doi: 10.1016/j.parkreldis.2008.04.037. Epub 2008 Jun 20.
Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
脆性X智力低下（FMR1）基因重复扩增的前突变携带者会出现运动性震颤和共济失调，即“脆性X相关震颤/共济失调综合征”（FXTAS）。受影响的FMR1前突变携带者也患有帕金森症，但尚未有报道称其符合帕金森病的诊断标准。该病例系列表明，一些FMR1前突变携带者患者通过病史和检查可能看似患有特发性帕金森病。根据以往研究，基因突变与帕金森症可能相关。尽管对所有帕金森病患者进行筛查的收益可能较低，但对于患有帕金森病且有脆性X综合征、自闭症或发育迟缓家族史或其他相关FMR1表型的个体，进行FMR1基因检测是有必要的。
