Article
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.
Journal of human genetics - 1 Jan 2001
Shiroma N, Kanazawa N, Izumi M, Sugai K, Fukumizu M, Sasaki M, Hanaoka S, Kaga M, Tsujino S
Abstract excerpt
Alexander disease is a leukodystrophy that is neuropathologically characterized by the presence of numerous Rosenthal fibers in astrocytes. Recently, mutations in the gene encoding glial fibrillary acidic protein (GFAP) were identified in patients with Alexander disease. We sequenced the GFAP gene of a Japanese girl who presented with typical symptoms of Alexander disease but in whom the diagnosis was not proven...
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