HYPOTHESIS - HOMOZYGOSITY IN TOURETTE SYNDROME
HYPOTHESIS - HOMOZYGOSITY IN TOURETTE SYNDROME
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DOI：
10.1002/ajmg.1320340318
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发表时间：
1989-11-01
期刊：
影响因子：
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通讯作者：
KNELL, E
中科院分区：
文献类型：
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作者：
COMINGS, DE;COMINGS, BG;KNELL, E
我们回顾证据表明，许多个体与抽动秽语综合征（TS）可能是纯合子的“抽动秽语综合征”基因。这是基于对1200个TS家庭系谱的研究经验，比较170个TS家庭与对照家庭的父母一方抽搐或相关行为（如强迫症行为、惊恐发作、注意力缺陷多动障碍和/或严重酒精或药物滥用）的发生情况，血液血清素和色氨酸水平的生化研究，以及其他证据。这些观察结果表明，TS的遗传可能最好描述为半显性，半隐性。讨论了这一建议的一些含义。
We review evidence suggesting that many individuals with Tourette syndrome (TS) may be homozygous for a "Tourette syndrome" gene. This is based on experience with pedigrees on 1,200 TS families, comparison of the occurrence of tics or associated behaviors such as obsessive-compulsive behavior, panic attacks, attention deficit hyperactivity disorder, and/or severe alcohol or drug abuse, on both the maternal and paternal side in 170 TS families compared to control families, biochemical studies of blood serotonin and tryptophan levels, and other evidence. These observations suggest the inheritance in TS may be best described as semi-dominant, semi-recessive. Some of the implications of this proposal are discussed.