Article
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Molecular genetics and metabolism - 1 Jun 2003
Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca M E, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E
Abstract excerpt
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...
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