Spinocerebellar ataxia type 15
Spinocerebellar ataxia type 15
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DOI：
10.1080/14734220410019029
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发表时间：
2005-01-01
期刊：
影响因子：
3.5
通讯作者：
Storey, E
中科院分区：
文献类型：
--
作者：
Gardner, RJM;Knight, MA;Storey, E
脊髓小脑性共济失调 15 型 (SCA15) 于 2001 年首次报道，基于澳大利亚的一个大盎格鲁-凯尔特家族，该基因座定位于染色体区域 3p24.2-3pter。典型的临床特征是进展非常缓慢，两名患者在出现症状 50 多年后仍能在没有帮助的情况下行走。一些人出现头部和/或上肢动作震颤，以及凝视诱发的水平眼球震颤。脑部核磁共振扫描显示，脑部主要萎缩，脑干不受影响。 2004年，报道了一个日本谱系，该谱系显示出与原始SCA15家族非常相似的临床特征，并且映射到重叠的候选区域。这两个家族可能合理地反映了基因座同质性，但目前这仍然是一个悬而未决的问题。
Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter. The characteristic clinical feature was of very slow progression, with two affected individuals remaining ambulant without aids after over 50 years of symptoms. Head and/or upper limb action tremor, and gaze-evoked horizontal nystagmus were seen in several persons. MRI brain scans showed predominant vermal atrophy, sparing the brainstem. In 2004, a Japanese pedigree was reported, which displayed very similar clinical features to the original SCA15 family, and which mapped to an overlapping candidate region. These two families might plausibly reflect a locus homogeneity, but for the present this remains an open question.