脆性X智力低下基因1前突变携带者的帕金森综合征可能与帕金森病难以区分。
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
作者信息
Hall Deborah A, Howard Katherine, Hagerman Randi, Leehey Maureen A
机构信息
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA.
出版信息
Parkinsonism Relat Disord. 2009 Feb;15(2):156-9. doi: 10.1016/j.parkreldis.2008.04.037. Epub 2008 Jun 20.
Abstract
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.
摘要
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。
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2
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Arch Neurol. 2007 Jul;64(7):1002-6. doi: 10.1001/archneur.64.7.1002.
3
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Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):566-9. doi: 10.1002/ajmg.b.30482.
4
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review.脆性X智力低下基因1（FMR1）重复序列扩增在运动障碍中的患病率：一项系统评价
Neuroepidemiology. 2006;26(3):151-5. doi: 10.1159/000091656. Epub 2006 Feb 21.
5
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.一名脆性X染色体携带者的帕金森综合征、自主神经功能障碍及核内包涵体：一项临床病理研究
Mov Disord. 2006 Mar;21(3):420-5. doi: 10.1002/mds.20753.
6
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Mov Disord. 2005 Aug;20(8):1060-2. doi: 10.1002/mds.20512.
7
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.脆性X前突变携带者神经受累的证据及范围：脆性X相关震颤/共济失调综合征及其他。
Clin Genet. 2005 May;67(5):412-7. doi: 10.1111/j.1399-0004.2005.00425.x.
8
Premutation alleles associated with Parkinson disease and essential tremor.与帕金森病和特发性震颤相关的前突变等位基因。
JAMA. 2004 Oct 13;292(14):1685-6. doi: 10.1001/jama.292.14.1685-b.
9
Parkinsonism, FXTAS, and FMR1 premutations.帕金森综合征、脆性X震颤共济失调综合征（FXTAS）和脆性X智力低下基因1（FMR1）前突变。
Mov Disord. 2005 Feb;20(2):230-3. doi: 10.1002/mds.20297.
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