Comprehensive phenotype of the p.arg420his allelic form of spinocerebellar ataxia type 13
Datum
2013-08-03Autor
MeSH term
Spinocerebellar Ataxias![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
Ataxia
![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
Mutation
![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
Cerebellar Ataxia
![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
Dysarthria
![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
Alleles
![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
Nerve Conduction Studies
![MeSH MeSH](/themes/Mirage2/images/MeSH-logo.jpg)
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Zusammenfassung
The p.Arg420H is 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.