Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene |
| |
Authors: | Sawaishi Yukio Yano Tamami Takaku Iwao Takada Goro |
| |
Affiliation: | Department of Pediatrics, Akita University School of Medicine, Japan. sawaishi@ped.med.akita-u.ac.jp |
| |
Abstract: | Early-onset (infantile) Alexander disease is associated with mutations in the glial fibrillary acidic protein (GFAP) gene and two hot spots correlate to the severe phenotype. No molecular mechanisms have been elucidated in late-onset (juvenile) Alexander disease. The authors report a novel GFAP mutation in a patient with juvenile Alexander disease. The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |