A CASE OF PELIZAEUS-MERZBACHER DISEASE SHOWING INCREASED DOSAGE OF THE PROTEOLIPID PROTEIN GENE

被引：31

作者：

HARDING, B ^{[1
]}

ELLIS, D ^{[1
]}

MALCOLM, S ^{[1
]}

机构：

[1] INST CHILD HLTH,LONDON,ENGLAND

来源：

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 1995年 / 21卷 / 02期

关键词：

PELIZAEUS-MERZBACHER DISEASE; PROTEOLIPID PROTEIN; GENE DUPLICATION; DYSMYELINATION; INHERITED DISEASE; LEUKODYSTROPHY; X-CHROMOSOME;

D O I：

10.1111/j.1365-2990.1995.tb01036.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, strider and seizures. Both brain and spinal cord showed almost complete absence of stainable central myelin, while cranial and spinal root myelin was preserved. Probes for cDNA in the boy and his asymptomatic mother indicated an increase in the dosage of proteolipid protein gene (of at least twofold) compared with controls.

引用

页码：111 / 115

页数：5

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