GLOBOID-CELL LEUKODYSTROPHY - A FAMILY WITH BOTH LATE-INFANTILE AND ADULT TYPE

被引：31

作者：

VERDRU, P

LAMMENS, M

DOM, R

VANELSEN, A

CARTON, H

机构：

[1] UNIV ZIEKENHUIZEN GASTHUISBERG,DEPT NEUROPATHOL,LOUVAIN,BELGIUM

[2] UNIV INSTELLING ANTWERP,CENTRUM MED GENET,B-2610 WILRIJK,BELGIUM

来源：

NEUROLOGY | 1991年 / 41卷 / 09期

关键词：

D O I：

10.1212/WNL.41.9.1382

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present a patient with adult-onset globoid cell leukodystrophy (GBL) who had almost complete deficiency of galactosylceramide beta-galactosidase. A brother of the index patient deteriorated neurologically and died at the age of 4, probably from the late-infantile form of the disease. In this family, two clinical types of GBL are probably different expressions of an identical genotype.

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页码：1382 / 1384

页数：3

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