FMR1 Gray-Zone Alleles: Association with Parkinson's Disease in Women?
FMR1 Gray-Zone Alleles: Association with Parkinson's Disease in Women?
复制标题
DOI：
10.1002/mds.23755
复制
发表时间：
2011-08-15
影响因子：
8.6
通讯作者：
Leehey, Maureen A.
中科院分区：
文献类型：
--
作者：
Hall, Deborah A.;Berry-Kravis, Elizabeth;Leehey, Maureen A.
脆性X智力发育迟滞者1在突变前重复扩增（55-200个CGG重复），尤其是男性，常发展为震颤、共济失调和帕金森病。这些神经学症状被认为是cgg重复脆性X智力迟钝1 mRNA扩增水平升高的结果。本研究的目的是确定脆性X智力迟钝1重复扩张在运动障碍人群中的患病率，该人群包括所有类型的震颤、共济失调和帕金森病。我们筛选了335名连续患有震颤、共济失调或帕金森病的患者和273名确认没有运动障碍的对照组。与对照组相比，病例中脆性X智力发育迟滞1前兆突变的大小扩展没有差异。11%的帕金森氏症女性患者有脆性X型精神发育迟滞1型灰色地带扩张，而女性对照组为4.4%（优势比为3.2；95%可信区间为1.2-8.7）。与对照组相比，其他表型患者的灰色区扩张并未过度代表。与对照组相比，脆性X智力发育迟滞1前兆突变范围扩大在混合性运动障碍人群中并不常见。然而，我们的研究结果表明，脆性X智力迟钝1灰色区等位基因可能与女性帕金森病有关。(C)2011运动障碍学会
Carriers of fragile X mental retardation 1 repeat expansions in the premutation range (55-200 CGG repeats), especially males, often develop tremor, ataxia, and parkinsonism. These neurological signs are believed to be a result of elevated levels of expanded CGG-repeat fragile X mental retardation 1 mRNA. The purpose of this study was to determine the prevalence of fragile X mental retardation 1 repeat expansions in a movement disorder population comprising subjects with all types of tremor, ataxia, and parkinsonism. We screened 335 consecutive patients with tremor, ataxia, or parkinsonism and 273 controls confirmed to have no movement disorders. There was no difference in fragile X mental retardation 1 premutation size expansions in the cases compared with controls. Eleven percent of the women with Parkinson's disease had fragile X mental retardation 1 gray-zone expansions compared with 4.4% of female controls (odds ratio of 3.2; 95% confidence interval, 1.2-8.7). Gray-zone expansions in patients with other phenotypes were not overrepresented in comparison with controls. Fragile X mental retardation 1 premutation range expansions are not more common in a mixed movement disorder population compared with controls. Our results, however, suggest that fragile X mental retardation 1 gray-zone alleles may be associated with Parkinson's disease in women. (C)2011 Movement Disorder Society