Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

被引：242

作者：

Tayebi, N

Walker, J

Stubblefield, B

Orvisky, E

LaMarca, ME

Wong, K

Rosenbaum, H

Schiffmann, R

Bembi, B

Sidransky, E

机构：

[1] NIMH, Sect Mol Neurogenet, NIH, Bethesda, MD 20892 USA

[2] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[3] Armed Forces Inst Pathol, Dept Neuropathol & Ophthalm Pathol, Washington, DC 20306 USA

[4] Rambam Med Ctr, Dept Hematol, Haifa, Israel

[5] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel

[6] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA

[7] IRCCS, VO Metab Disorders, Trieste, Italy

来源：

MOLECULAR GENETICS AND METABOLISM | 2003年 / 79卷 / 02期

关键词：

Gaucher disease; glucocerebrosidase; Parkinsonism; metaxin; genotype/phenotype correlation; Lewy body; moditier gene;

D O I：

10.1016/S1096-7192(03)00071-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, including five N370S homozygotes. While brain glucosylsphingosine levels were not elevated, Lewy bodies were seen in the four brains available for study. The shared clinical and neuropathologic findings in this subgroup suggest that the deficiency in glucocerebrosidase may contribute to a vulnerability to parkinsonism. Published by Elsevier Science (USA).

引用

页码：104 / 109

页数：6

共 23 条

[1] Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion [J].