Abstract
Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup.
Highlights
Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations
We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup
A 27-year-old woman with blurred vision was referred to our department because of abnormalities noted on brain magnetic resonance imaging (MRI)
Summary
Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup. Since mutations of glial fibrillary acidic protein (GFAP) were identified as the cause of AxD in 2001,1 genetic testing of GFAP has become a powerful tool for the diagnosis of AxD.
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