An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP
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DOI：
10.1016/j.braindev.2005.05.004
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发表时间：
2006-03-01
影响因子：
1.7
通讯作者：
Saitoh, S
中科院分区：
文献类型：
--
作者：
Asahina, N;Okamoto, T;Saitoh, S
亚历山大病是一种由胶质纤维酸性蛋白（GFAP）基因突变引起的退行性白质疾病。它根据发病年龄和严重程度分为三种形式：婴儿、少年和成人形式。在一名患有相对轻微的亚历山大病的6岁患者中，我们检测到GFAP中常见的R79H突变，以前只在婴儿形式中描述过。这些结果表明需要进一步研究基因型-表型相关性。(c) 2005 Elsevier B.V.版权所有
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 6-year-old 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. (c) 2005 Elsevier B.V. All rights reserved.