FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients.
FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients.
复制标题
FMR1 基因扩增和扫描没有帕金森病患者多巴胺能缺陷的证据。
DOI：
10.1016/j.parkreldis.2010.07.006
复制
发表时间：
2010
影响因子：
4.1
通讯作者：
Marek,K
中科院分区：
文献类型：
--
作者：
Hall,DA;Jennings,D;Seibyl,J;Tassone,F;Marek,K
PURPOSETo determine if patients with parkinsonism and fragile X mental retardation 1 (FMR1) gene expansions have a striatal dopamine deficit similar to Parkinson disease (PD) patients.SCOPEThe authors studied three patients with parkinsonism carrying small expansions in the FMR1 gene (41–60 CGG) with [123I]β-CIT SPECT imaging. The patients responded to dopaminergic medications, but had preserved dopamine transporter density.CONCLUSIONSThese results suggest that parkinsonism associated with smaller FMR1 expansions may be related to mechanisms other than pre-synaptic dopaminergic changes and may represent a potential explanation for at least some parkinsonian cases with scans without evidence of dopaminergic deficits (SWEDD).
影响因子：
120.7
作者：
Jacquemont, S;Hagerman, RJ;Hagerman, PJ
通讯作者：
Hagerman, PJ
脆性 X 前突变携带者帕金森病的多巴胺转运蛋白成像研究
影响因子：
9.9
作者：
R. Ceravolo;Angelo Antonini;D. Volterrani;C. Rossi;S. Goldwurm;E. D. Maria;L. Kiferle;U. Bonuccelli;Luigi Murri
通讯作者：
Luigi Murri
健康人类受试者体内 [123I]β-CIT 与多巴胺转运蛋白结合的图形、动力学和平衡分析
影响因子：
6.3
作者：
M. Laruelle;E. Wallace;J. Seibyl;R. Baldwin;Y. Zea‐Ponce;S. Zoghbi;J. Neumeyer;D. Charney;P. Hoffer;R. Innis
通讯作者：
R. Innis