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Updated: May 25, 2026
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Sequential Extraction of Soluble and Insoluble Alpha-Synuclein from Parkinsonian Brains
Published on: January 5, 2016
Gaucher disease and the synucleinopathies: refining the relationship
Tessa N Campbell1, Francis Y M Choy
1TNC Scientific Consulting, Calgary, AB, Canada.
Orphanet Journal of Rare Diseases
|February 1, 2012
Summary
Gaucher disease, a lysosomal storage disorder, involves glucocerebrosidase deficiency and diverse symptoms. This review explores its potential links to synucleinopathies like Parkinson's disease.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Gaucher disease is the most common lysosomal storage disorder, caused by glucocerebrosidase deficiency.
- It presents with varied clinical phenotypes, including hepatosplenomegaly, hematological, and orthopedic issues.
- Gaucher disease is classified into three types based on neurological involvement: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic).
Purpose of the Study:
- To review the potential relationship between Gaucher disease and synucleinopathies.
- To discuss possible mechanisms underlying the interaction between Gaucher disease and synucleinopathies.
Main Methods:
- Literature review of studies on Gaucher disease and synucleinopathies.
- Analysis of genotype-phenotype correlations in Gaucher disease.
- Examination of emerging research on comorbidities associated with Gaucher disease.
Main Results:
- Over 300 mutations identified in Gaucher disease, mostly missense.
- Genotype-phenotype correlations show heterogeneity but reveal consistent patterns.
- Emerging research suggests a role for Gaucher disease in comorbidities like cancer and Parkinson's Disease.
Conclusions:
- Gaucher disease has a wide spectrum of clinical presentations and genetic mutations.
- Understanding the link between Gaucher disease and synucleinopathies may offer new insights into neurodegenerative disorders.
- Further research into the interaction mechanisms is warranted.
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