Barabas G, Wardell B, Sapiro M, Matthews W S
J Child Neurol. 1986 Oct;1(4):358-60. doi: 10.1177/088307388600100407.
Three patients with Down's syndrome and coincident Tourette syndrome are presented. Two patients had trisomy for G-group chromosome and one patient had mosaic trisomy. All had characteristic features of Gilles de la Tourette syndrome with multiple motor and vocal tics. While Tourette syndrome has been reported in other chromosomopathies, this report appears to be the first to note an association with Down's syndrome. The authors hypothesize that neurotransmitter abnormalities existing in Down's syndrome may predispose such individuals to basal ganglia dysfunction and the subsequent development of tics. In particular, abnormalities in serotonin metabolism may be involved.
本文报告了3例患有唐氏综合征并伴有抽动秽语综合征的患者。2例患者为G组染色体三体，1例患者为嵌合三体。所有患者均具有抽动秽语综合征的特征，伴有多种运动性和发声性抽动。虽然抽动秽语综合征在其他染色体病中已有报道，但本报告似乎是首次指出与唐氏综合征有关联。作者推测，唐氏综合征中存在的神经递质异常可能使这些个体易患基底神经节功能障碍及随后出现抽动。特别是，5-羟色胺代谢异常可能与之有关。
