Lesch K P, Stöber G, Balling U, Franzek E, Li S H, Ross C A, Newman M, Beckmann H, Riederer P
Department of Psychiatry, University of Würzburg, Federal Republic of Germany.
J Neural Transm Gen Sect. 1994;98(2):153-7. doi: 10.1007/BF01277018.
Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, indicates that genes with triplet repeat expansions or other unstable repetitive elements affecting gene expression may be involved in the etiology of this disorder. Because patients affected with dentatorubral-pallidoluysian atrophy (DRPLA) may present with "schizophrenic" symptoms, we have investigated the DRPLA (B 37 CAG repeat) locus on chromosome 12 in 41 patients with periodic catatonia. The B 37 CAG repeat locus was highly polymorphic but all alleles in both the patient and control group had repeat sizes within the normal range. We conclude that variation at the DRPLA locus is unlikely to be associated with periodic catatonia. The evidence for dominant inheritance and anticipation as well as the high prevalence of human brain genes containing trinucleotide repeats justifies further screening for triplet repeat expansions in periodic catatonia.
周期性紧张症是精神分裂症的一种独特亚型，关于其显性遗传模式和遗传早现的临床证据表明，具有三联体重复序列扩增或其他影响基因表达的不稳定重复元件的基因可能参与了该疾病的病因。由于齿状核红核苍白球路易体萎缩症（DRPLA）患者可能出现“精神分裂症”症状，我们对41例周期性紧张症患者的12号染色体上的DRPLA（B 37 CAG重复序列）位点进行了研究。B 37 CAG重复序列位点具有高度多态性，但患者组和对照组的所有等位基因的重复序列长度均在正常范围内。我们得出结论，DRPLA位点的变异不太可能与周期性紧张症相关。显性遗传和遗传早现的证据以及含三核苷酸重复序列的人类脑基因的高患病率证明有必要进一步筛查周期性紧张症中的三联体重复序列扩增情况。
