A patient homozygous for the SCA6 gene with retinitis pigmentosa
A patient homozygous for the SCA6 gene with retinitis pigmentosa
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DOI：
10.1034/j.1399-0004.2002.610510.x
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发表时间：
2002-05-01
影响因子：
3.5
通讯作者：
Nakajima, T
中科院分区：
文献类型：
--
作者：
Fukutake, T;Kamitsukasa, I;Nakajima, T
本文作者研究了一名SCA6基因纯合子的55岁患者，该患者在37岁时频繁发生位置性眩晕，随后出现步态蹒跚和夜盲症。视网膜色素变性（RP），以及小脑共济失调和垂直反方向性眼球震颤，被检测到。该受试者的父母是堂兄弟姐妹，其三个堂兄弟姐妹中的两个，其父母也是堂兄弟姐妹，患有RP，但无共济失调或眼球震颤。通过分子分析发现SCA6基因扩增等位基因中CAG重复数分别为21和21。SCA1、SCA2、SCA3、SCA7和齿状核红核苍白球路易体萎缩均为阴性。该患者的视网膜变性很可能是继发于常染色体或X连锁隐性遗传的遗传性疾病，而不是SCA6。其他报告的病例纯合子的SCA6基因也进行了审查。
The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.