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An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
| Title: | An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP |
| Authors: | Asahina, Naoko Browse this author | | Okamoto, Takayuki Browse this author | | Sudo, Akira Browse this author | | Kanazawa, Naomi Browse this author | | Tsujino, Seiichi Browse this author | | Saitoh, Shinji Browse this author →KAKEN DB |
| Keywords: | Alexander disease | | glial fibrillary acidic protein | | genotype-phenotype | | correlation | | infantile form | | juvenile form |
| Issue Date: | Mar-2006 |
| Publisher: | Elsevier |
| Journal Title: | Brain and Development |
| Volume: | 28 |
| Issue: | 2 |
| Start Page: | 131 |
| End Page: | 133 |
| Publisher DOI: | 10.1016/j.braindev.2005.05.004 |
| PMID: | 16168593 |
| Abstract: | Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a six-yearold patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP previously only described in the infantile form. These results suggest the need for further studies of the genotype-phenotype correlation. |
| Relation: | http://www.sciencedirect.com/science/journal/03877604 |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/8415 |
| Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 齋藤 伸治
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