Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases.
Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases.
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齿状红核苍白球萎缩家族的遗传分析：与明显散发病例的相关性。
DOI：
10.2169/internalmedicine.38.287
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发表时间：
1999
影响因子：
1.2
通讯作者：
Masao Uchida
中科院分区：
文献类型：
--
作者：
M. Hattori;H. Yuasa;K. Takada;Tomoyuki Yamada;Kentaro Yamada;K. Kamimoto;Masao Uchida
齿状核红核-苍白球路易氏体萎缩（DRPLA）与不稳定的CAG三核苷酸序列相关。我们描述了一个DRPLA家族，其成员有一个等位基因含有扩大CAG重复，即使在一个老年神经正常的个人。先证者在14岁时患上了DRPLA。她最初被认为是一个散发病例，但后来她的妹妹出现了症状。对她家族中CAG重复单位数量的调查显示，这位81岁的父亲有51个单位的扩大CAG重复。据我们所知，这样的高龄未受影响的患者以前没有记录。本例可以解释明显的散发病例。
Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with an unstable CAG trinucleotide sequence. We describe a DRPLA family whose members have an allele containing an expanded CAG repeat, even in an elderly neurologically normal individual. The proband developed DRPLA at age 14. She was initially considered a sporadic case, but later her sister became symptomatic. Investigation of the number of CAG repeat units in her family revealed the 81-year-old father to have an expanded CAG repeat of 51 units. To our knowledge, such an advanced aged unaffected patient has not been previously documented. The present example may explain apparent sporadic cases.