Kurz Martin Wilhelm, Schlitter Anna Melissa, Klenk Yvonne, Mueller Thomas, Larsen Jan Petter, Aarsland Dag, Dekomien Gabriele
Department of Neurology, Heinrich-Heine-University, Düsseldorf, Germany.
J Geriatr Psychiatry Neurol. 2007 Jun;20(2):89-92. doi: 10.1177/0891988706297737.
Carriers of expanded alleles of the fragile X mental retardation (FMR1) gene may display parkinsonism, cognitive decline, and behavioral changes. The authors screened 2 male groups of patients affected with Parkinson's disease (PD) (n = 137). One group (n = 56) was followed longitudinally for up to 12 years. Length of CGG repeats in PD patients was compared with healthy controls (n = 310). In addition, the association of the number of CGG repeats with cognitive decline or hallucinations was studied in the longitudinally followed PD group. The authors found no repeats in the premutation range (55-200 CGG repeats) and no significant difference in the proportion of intermediate-size (41-54 CGG repeats) carriers between the PD and the control groups. Using linear regression, the number of CGG repeats was not related to motor or cognitive progression. However, the marked cognitive decline in 2 patients carrying intermediate-size alleles points to a possible association. More studies with larger PD samples are warranted.
脆性X智力低下（FMR1）基因扩展等位基因的携带者可能会出现帕金森综合征、认知能力下降和行为改变。作者对两组患帕金森病（PD）的男性患者（n = 137）进行了筛查。其中一组（n = 56）进行了长达12年的纵向随访。将PD患者的CGG重复序列长度与健康对照者（n = 310）进行比较。此外，在纵向随访的PD组中研究了CGG重复序列数量与认知能力下降或幻觉之间的关联。作者在前突变范围（55 - 200个CGG重复序列）内未发现重复序列，且PD组与对照组之间中等大小（41 - 54个CGG重复序列）携带者的比例无显著差异。使用线性回归分析，CGG重复序列数量与运动或认知进展无关。然而，两名携带中等大小等位基因的患者出现明显的认知能力下降，这表明可能存在关联。有必要对更大样本的PD患者进行更多研究。
