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Gaucher disease and the synucleinopathies: refining the relationship

Tessa N Campbell1 and Francis YM Choy2*

Author Affiliations

1 TNC Scientific Consulting, Calgary, AB, Canada

2 Department of Biology, University of Victoria, PO Box 3020, Station CSC, Victoria, BC, V8W 3N5, Canada

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Orphanet Journal of Rare Diseases 2012, 7:12  doi:10.1186/1750-1172-7-12

Published: 31 January 2012


Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological changes, and orthopaedic complications being the predominant symptoms. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). Nearly 300 mutations have been identified in Gaucher patients, with the majority being missense mutations. Though studies of genotype-to-phenotype correlations have revealed significant heterogeneity, some consistent patterns have emerged to inform prognostic and therapeutic decisions. Recent research has highlighted a potential role for Gaucher disease in other comorbidities such as cancer and Parkinson's Disease. In this review, we will examine the potential relationship between Gaucher disease and the synucleinopathies, a group of neurodegenerative disorders characterized by the development of intracellular aggregates of α-synuclein. Possible mechanisms of interaction will be discussed.

Gaucher disease; glucocerebrosidase; GBA mutations; lysosomal storage disease; synucleinopathies; Parkinson's disease; dementia with Lewy bodies; multiple system atrophy; neurodegeneration with brain iron accumulation; protein misfolding