Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
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DOI：
10.1007/s12311-013-0507-6
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发表时间：
2013-12
期刊：
影响因子：
3.5
通讯作者：
Waters, Michael F.
中科院分区：
文献类型：
--
作者：
Subramony, S. H.;Advincula, Joel;Perlman, Susan;Rosales, Raymond L.;Lee, Lillian V.;Ashizawa, Tetsuo;Waters, Michael F.
关键词：
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13p.Arg420His. In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. The online version of this article (doi:10.1007/s12311-013-0507-6) contains supplementary material, which is available to authorized users.
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影响因子：
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作者：
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通讯作者：
Klockgether, T.
影响因子：
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作者：
Subramony, S H
通讯作者：
Subramony, S H
影响因子：
9.9
作者：
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通讯作者：
Pulst, S. M.