TITLE

The first Korean case of adult-onset Alexander disease

AUTHOR(S)
Yu Jin Jung; Jeon, Beom S.
PUB. DATE
June 2014
SOURCE
Neurology Asia;Jun2014, Vol. 19 Issue 2, p207
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
Alexander disease (AxD) is a progressive neurodegenerative disorder caused by mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Three subtypes of AxD have been identified based on the age of onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). The adult form is rare and presents with unique clinical features different from those of the infantile forms. Here, we present the first Korean case of adult-onset cerebellar ataxia with typical tadpole-like brainstem atrophy on the magnetic resonance imaging (MRI). Molecular genetic analysis revealed a heterozygous missense mutation (c.1246C>T, p.R416W) in the GFAP gene.
ACCESSION #
96987176

 

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