UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)
UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)
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DOI：
10.1038/ng0194-9
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发表时间：
1994-01-01
期刊：
影响因子：
30.8
通讯作者：
TSUJI, S
中科院分区：
文献类型：
--
作者：
KOIDE, R;IKEUCHI, T;TSUJI, S
遗传性齿状网膜-苍白球萎缩症（DRPLA）是一种常染色体显性神经系统疾病，其特征是肌阵挛、癫痫、小脑性共济失调、舞蹈症和痴呆的可变组合。通过特异性搜索已发表的脑cDNA序列以寻找CAG重复序列的存在，我们在所有22例DRPLA患者的12号染色体上的一个基因中发现了CAG的不稳定扩增。在该组中发现CAG重复扩增的大小与发病年龄之间存在良好的相关性。发病较早的患者往往具有进行性肌阵挛性癫痫的表型和较大的扩张。我们认为，DRPLA的各种临床表现现在可以用CAG重复序列的可变不稳定扩张来解释。
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.