Central nervous system therapy for lysosomal storage disorders

被引：33

作者：

Enns, Gregory M. ^{[1
]}

Huhn, Stephen L. ^{[2
,3
]}

机构：

[1] Stanford Univ, Lucile Packard Childrens Hosp, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA

[2] Stanford Univ, Lucile Packard Childrens Hosp, Dept Neurosurg, Stanford, CA 94305 USA

[3] Stemcells Inc, Palo Alto, CA USA

来源：

NEUROSURGICAL FOCUS | 2008年 / 24卷 / 3-4期

关键词：

bone marrow transplantation; enzyme replacement therapy; gene therapy; lysosomal storage disorder; stem cell transplantation; substrate reduction therapy;

D O I：

10.3171/FOC/2008/24/3-4/E11

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Most lysosomal storage disorders are characterized by progressive central nervous system impairment, with or without systemic involvement. Affected individuals have an array of symptoms related to brain dysfunction, the most devastating of which is neurodegeneration following a period of normal development. The blood-brain barrier has represented a significant impediment to developing therapeutic approaches to treat brain disease, but novel approaches including enzyme replacement, small-molecule, gene, and cell-based therapies-have given children afflicted by these conditions and those who care for them hope for the future.

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页数：12

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