亚历山大病

结论此次发现为国内首例中国亚历山大病患者GFAP基因突变报告；

Conclusion The study on mutation of GFAP gene in Chinese patients with Alexander disease has never been reported previously .

GFAP基因缺陷是造成中国人亚历山大病的原因，该突变结果可直接用于亚历山大病的遗传咨询和产前基因诊断。

The mutation analysis of GFAP gene can provide valuable information for the diagnosis of Alexander disease and can serve as a reliable method of prenatal diagnosis for the family .

一例婴儿型亚历山大病胶质细胞原纤维酸性蛋白基因突变研究

Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease

死前有多种症状（亚历山大蒲柏）；亚历山大病及海绵状脑白质营养不良

Dying of a hundred good symptoms ( Alexander Pope ); Alexander disease and Canavan disease

成年起病的亚历山大病较先前的认为更为常见，而且甚至可能是亚历山大病中最常见的类型。

AOAD is more common than previously thought and might even be the most common form of AD.

病程多不相同，常呈缓慢进行性且没有早发型亚历山大病严重。

The course is variable , usually slowly progressive and less severe than the AD forms with earlier onset .

目的探讨中国人婴儿型亚历山大病（infantileAlexanderdisease）发病的分子基础，为诊断、预防及最终治疗本病提供依据。

Objective To investigate the molecular basis of infantile Alexander disease in a Chinese patient , which may yield useful information for further genetic counseling .

成年起病的亚历山大病具有与早发型亚历山大病不同的临床和神经系放射学的表现，其异常主要集中在脑干脊髓接合处。

AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD , as abnormalities are mainly concentrated in the brainstem – spinal cord junction .