Franzek E, Schmidtke A, Beckmann H, Stöber G
Department of Psychiatry, University of Würzburg, Germany.
Psychiatry Res. 1995 Nov 29;59(1-2):17-24. doi: 10.1016/0165-1781(95)02753-x.
The study is based on sibships with multiply afflicted members derived from a family study of consecutively admitted probands with catatonic schizophrenia. As shown recently, the clinical subtype of periodic catatonia, as defined by Leonhard, is compatible with a major gene effect and genetic anticipation; that is, the age of illness onset of the probands is significantly earlier than that of their parents. In the present study, 83 probands with the clinical subtype of periodic catatonia had 26 afflicted siblings that were distributed among 23 families. We analyzed sex-concordance and pseudoautosomal inheritance patterns. Stratifying the 26 afflicted siblings by sibship size and by the proband's sex, we did not find unusual sex-concordance rates in sibships afflicted with periodic catatonia. Further, there was no association between sex concordance and maternal or paternal origin of the disease. Thus, our results provide strong evidence against pseudoautosomal inheritance or sex-linked transmission in affected sibships in the obviously familial schizophrenic subtype of periodic catatonia.
该研究基于对连续收治的紧张型精神分裂症先证者进行家系研究而得出的有多例患病成员的同胞关系。正如最近所表明的,莱昂哈德所定义的周期性紧张症临床亚型与主基因效应和遗传早现相符;也就是说,先证者的发病年龄明显早于其父母。在本研究中,83例周期性紧张症临床亚型的先证者有26名患病同胞,分布在23个家庭中。我们分析了性别一致性和拟常染色体遗传模式。按同胞关系大小和先证者性别对这26名患病同胞进行分层,我们未在患有周期性紧张症的同胞关系中发现异常的性别一致率。此外,性别一致性与疾病的母系或父系起源之间没有关联。因此,我们的结果提供了强有力的证据,反对在周期性紧张症这一明显的家族性精神分裂症亚型中,受影响同胞关系存在拟常染色体遗传或性连锁传递。