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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Rett syndrome: investigation of nine patients, including PET scan.
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Rett syndrome: investigation of nine patients, including PET scan.

机译：Rett综合征：调查9例患者，包括PET扫描。

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BACKGROUND: We describe nine females with Rett Syndrome (RS), aged 14 to 26 years. All had had developmental delay before the end of their first year and had subsequently regressed to profound dementia with apraxia, ataxia, irregular respirations and often also seizures. METHODS: The Revised Gesell developmental assessment and Alpern-Boll Developmental Profile were used in modified form. Volumetric measurements of basal ganglia using MRI were compared with the findings in nine age-matched volunteer females. Positron emission scans with [18F]-6-fluorodopa and [11C]-raclopride were performed under light anesthesia with intravenous Propofol, and the findings were compared with those in healthy control girls. Bidirectional sequencing of the coding regions of the MECP2 gene was investigated in blood samples for mutational analyses. RESULTS: The RS females functioned at a mental age level ranging from about 4 to 15 months. The scores correlated with height, weight and head circumference. Magnetic resonance scans of basal ganglia showed a significant reduction in the size of the caudate heads and thalami in the Rett cases. Positron emission scans demonstrated that the mean uptake of fluorodopa in RS was reduced by 13.1% in caudate and by 12.5% in putamen as compared to the controls, while dopamine D2 receptor binding was increased significantly by 9.7% in caudate and 9.6% in putamen. Mutations in the coding regions of the MECP2 gene were present in all nine patients. No significant correlation between type and location of mutation and volumetric changes or isotope uptake was demonstrable. CONCLUSIONS: Our findings suggest a mild presynaptic deficit of nigrostriatal activity in Rett syndrome.
机译：背景：我们描述了9名女性，患有Rett综合征（RS），年龄在14至26岁之间。所有人在第一年末之前都有发育迟缓，随后退化为重度痴呆症，伴有失用，共济失调，呼吸不规则以及经常发作。方法：修订版的Gesell发育评估和Alpern-Boll发育概况被使用。将使用MRI进行的基底节神经节的体积测量与9名年龄匹配的志愿者女性的发现进行了比较。在静脉麻醉下使用异丙酚在轻度麻醉下用[18F] -6-氟多巴和[11C]-雷氯必利进行正电子发射扫描，并将其发现与健康对照女孩进行比较。在血液样本中研究了MECP2基因编码区的双向测序以进行突变分析。结果：RS女性的心理年龄在大约4至15个月的范围内。得分与身高，体重和头围相关。基底节的磁共振扫描显示，在Rett病例中，尾状头和丘脑的大小明显减少。正电子发射扫描表明，与对照组相比，RS中氟多巴的平均摄取在尾状体中降低了13.1％，在壳状体中降低了12.5％，而多巴胺D2受体结合在尾状体中显着提高了9.7％，在壳状体中提高了9.6％。所有9名患者中均存在MECP2基因编码区的突变。突变的类型和位置与体积变化或同位素吸收之间没有显着相关性。结论：我们的研究结果提示Rett综合征患者黑纹状体活动的轻度突触前不足。

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