PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0017205|gaucher disease |
| Sentences | 1 |
| PubMedID- 22563238 | gaucher disease is associated with parkinsonian syndromes, including parkinsonism with lewy body dementia.53 glucocerebrosidase mutations in heterozygous as well as homozygous forms have been associated with a variety of parkinsonian phenotypes; these tend to have an earlier onset and are less responsive to dopaminergic agonists than “classical” non-gaucher-associated parkinson disease.54 the mechanism underlying this association is unclear, but molecular interactions between glucocerebrosidase mutants and processing of α-synuclein are strongly implicated: β-glucocerebrosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing.55 overexpression of several mutant glucocerebrosidases (including familiar gaucher disease-related molecules such as n370s, l444p, d409h, d409v, e235a, and e340a) increased α-synuclein expression in cultured neural cell lines, but without altering glucocerebrosidase activity; in contrast, overexpression of wild-type glucocerebrosidase significantly increased glucocerebrosidase activity, as expected, but had mixed effects on α-synuclein.56 in cell culture models, the “gain of function” toxic effect was mitigated by rapamycin. |
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