Lappalainen R, Riikonen R S
Department of Child Neurology, Children's Castle Hospital, Helsinki, Finland.
Pediatr Neurol. 1996 Oct;15(3):213-6. doi: 10.1016/s0887-8994(96)00218-4.
Rett syndrome is a neurodevelopmental disease affecting girls. The cause is not known. Roles for trophic factors and excitatory neurotransmitters have been postulated. To study the significance of excitatory amino acids in Rett syndrome, we determined glutamate and aspartate concentrations in the cerebrospinal fluid from 11 girls with Rett syndrome (age 8 years 4 months +/- 5.7 years, mean +/- SD) and 11 controls (age 7 +/- 4.2 years). In the patients with Rett syndrome, the mean of cerebrospinal fluid glutamate concentration was 355.2 nmol/L (SD +/- 109.2 nmol/L). In the controls it was 203.9 nmol/L (SD +/- 55.5 nmol/L). In Rett syndrome cases, cerebrospinal fluid glutamate concentrations were significantly higher (P = 0.0006) than in the controls. In the Rett syndrome group, the mean cerebrospinal fluid aspartate concentration was 119.4 nmol/L (SD +/- 43.5 nmol/L). In the control group, it was 90.9 nmol/L (SD +/- 20.9 nmol/L). The difference between the cerebrospinal fluid aspartate values was not significant. Glutamate may therefore play an important role in the primary pathogenesis in Rett syndrome. Further investigations are needed, with recognition of possible actions of neuronal growth factors and excitatory neurotransmitters in the damage mechanisms of Rett syndrome.
瑞特综合征是一种影响女童的神经发育疾病。病因不明。已推测营养因子和兴奋性神经递质发挥了作用。为研究兴奋性氨基酸在瑞特综合征中的意义，我们测定了11名瑞特综合征女童（年龄8岁4个月±5.7岁，均值±标准差）和11名对照女童（年龄7±4.2岁）脑脊液中的谷氨酸盐和天冬氨酸盐浓度。在瑞特综合征患者中，脑脊液谷氨酸盐浓度均值为355.2纳摩尔/升（标准差±109.2纳摩尔/升）。对照组中为203.9纳摩尔/升（标准差±55.5纳摩尔/升）。在瑞特综合征病例中，脑脊液谷氨酸盐浓度显著高于对照组（P = 0.0006）。在瑞特综合征组中，脑脊液天冬氨酸盐浓度均值为119.4纳摩尔/升（标准差±43.5纳摩尔/升）。在对照组中，为90.9纳摩尔/升（标准差±20.9纳摩尔/升）。脑脊液天冬氨酸盐值之间的差异不显著。因此，谷氨酸盐可能在瑞特综合征的原发性发病机制中起重要作用。需要进一步开展研究，认识神经元生长因子和兴奋性神经递质在瑞特综合征损伤机制中的可能作用。
