| Popis: |
Gaucher disease is due to a deficiency in the lysosomal hydrolase glucocerebrosidase. The disease has been further subdivided into three phenotypes based upon clinical symptoms of neurological involvement: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). Types 2 and 3 Gaucher disease differ in both their average age of onset and rate of progression of clinical characteristics. Several disease models are currently available to study the underlying neurodegenerative mechanisms to identify key therapeutic targets. Recently, mutations in the glucocerebrosidase gene have also been identified as risk factors for two synucleinopathies, Parkinson’s disease, and dementia with Lewy bodies. Examination of the relationships among these diseases may provide new avenues for investigation and lead to the development of novel treatments for cognitive decline. |
