Abstract
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.
Original language | English (US) |
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Pages (from-to) | 104-109 |
Number of pages | 6 |
Journal | Molecular Genetics and Metabolism |
Volume | 79 |
Issue number | 2 |
DOIs | |
State | Published - Jun 1 2003 |
Externally published | Yes |
Keywords
- Gaucher disease
- Genotype/phenotype correlation
- Glucocerebrosidase
- Lewy body
- Metaxin
- Modifier gene
- Parkinsonism
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology