Sano A, Yamauchi N, Kakimoto Y, Komure O, Kawai J, Hazama F, Kuzume K, Sano N, Kondo I
Department of Neuropsychiatry, Ehime University School of Medicine, Japan.
Hum Genet. 1994 Jun;93(6):699-702. doi: 10.1007/BF00201575.
Anticipation refers to the progressively earlier onset and increase in disease severity in successive generations. We studied four families with hereditary dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disease, and anticipation was present in the mode of inheritance. In subsequent generations DRPLA shows an earlier onset and more severe as well as additional symptoms. Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission.
遗传早现是指在连续几代人中疾病发病年龄逐渐提前且病情严重程度增加。我们研究了四个患有遗传性齿状核红核苍白球路易体萎缩症（DRPLA）的家族，这是一种神经退行性疾病，其遗传方式存在遗传早现现象。在后代中，DRPLA发病更早、病情更严重且会出现更多症状。发病年龄较大的患者患有小脑共济失调，伴有或不伴有痴呆，而发病年龄较小的患者表现为进行性肌阵挛癫痫综合征，包括智力发育迟缓、痴呆、小脑共济失调以及癫痫和肌阵挛。父系遗传的遗传早现现象显著大于母系遗传。
