Article

De novo mutations in GFAP cause Alexander disease: clinical features, fMRI and functional analysis

2020-06-12

Abstract excerpt

<title>Abstract</title> <p>Background: Alexander disease (AxD) is a progressive and fatal neurological disorder characterized by white matter degeneration and Rosenthal fibers inclusions, which was caused by <italic>GFAP </italic>mutations. Since the first description of AxD, more than 550 cases have been reported. We identified two patients with de novo mutations in <italic>GFAP </italic>gene causing bulbospinal...

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Literature Corpus work: 5e169c8d-a128-552f-a192-7ade6fa57e2d
DOI: 10.21203/rs.3.rs-34630/v1

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