Title

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

Document Type

Article

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.

Medical Subject Headings

Adult; Arginine (genetics); Cerebellum (pathology); Family Health; Female; Genetic Linkage; Genotype; Histidine (genetics); Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation (genetics); Phenotype; Philippines; Shaw Potassium Channels (genetics); Spinocerebellar Ataxias (congenital); Spinocerebellar Degenerations (genetics, pathology, physiopathology)

Publication Date

12-1-2013

Publication Title

Cerebellum (London, England)

E-ISSN

1473-4230

Volume

12

Issue

6

First Page

932

Last Page

6

PubMed ID

23912307

Digital Object Identifier (DOI)

10.1007/s12311-013-0507-6

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