期刊
MOLECULAR GENETICS AND METABOLISM
卷 79, 期 2, 页码 104-109出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/S1096-7192(03)00071-4
关键词
Gaucher disease; glucocerebrosidase; Parkinsonism; metaxin; genotype/phenotype correlation; Lewy body; moditier gene
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).
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