Unknown

Dataset Information

0

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.


ABSTRACT: 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 SCA13(p.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.

SUBMITTER: Subramony SH 

PROVIDER: S-EPMC3824261 | BioStudies | 2013-01-01

REPOSITORIES: biostudies

Similar Datasets

2014-01-01 | S-EPMC4181561 | BioStudies
2010-01-01 | S-EPMC2933717 | BioStudies
2012-01-01 | S-EPMC3484873 | BioStudies
2019-01-01 | S-EPMC6520513 | BioStudies
2011-01-01 | S-EPMC3066194 | BioStudies
2015-01-01 | S-EPMC4681123 | BioStudies
2015-01-01 | S-EPMC4355074 | BioStudies
2012-01-01 | S-EPMC3338928 | BioStudies
2020-01-01 | S-EPMC6962671 | BioStudies
2019-01-01 | S-EPMC6373366 | BioStudies