Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle

@article{Sardi2015GaucherrelatedST,
  title={Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle},
  author={S Pablo Sardi and Seng H. Cheng and Lamya S. Shihabuddin},
  journal={Progress in Neurobiology},
  year={2015},
  volume={125},
  pages={47-62}
}
Gaucher disease, the most common lysosomal storage disease, is caused by a recessively inherited deficiency in glucocerebrosidase and subsequent accumulation of toxic lipid substrates. Heterozygous mutations in the lysosomal glucocerebrosidase gene (GBA1) have recently been recognized as the highest genetic risk factor for the development of α-synuclein aggregation disorders ("synucleinopathies"), including Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Despite the wealth of… CONTINUE READING