Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

Tamar Shachar, Christophe Lo Bianco, Alessandra Recchia, Christoph Wiessner, Annick Raas-Rothschild, Anthony H. Futerman

Research output: Contribution to journalReview articlepeer-review


Parkinson's disease is associated with mutations in the glucocerebrosidase gene, which result in the enzyme deficiency causing Gaucher disease, the most common lysosomal storage disorder. We have performed an exhaustive literature search and found that additional lysosomal storage disorders might be associated with Parkinson's disease, based on case reports, the appearance of pathological features such as α-synuclein deposits in the brain, and substantia nigra pathology. Our findings suggest that the search for biochemical and cellular pathways that link Parkinson's disease with lysosomal storage disorders should not be limited exclusively to changes that occur in Gaucher disease, such as changes in glucocerebrosidase activity or in glucosylceramide levels, but rather include changes that might be common to a wide variety of lysosomal storage disorders. Moreover, we propose that additional genetic, epidemiological, and clinical studies should be performed to check the precise incidence of mutations in genes encoding lysosomal proteins in patients displaying Parkinson's symptoms.

Original languageEnglish
Pages (from-to)1593-1604
Number of pages12
JournalMovement Disorders
Issue number9
StatePublished - 1 Aug 2011
Externally publishedYes


  • Gaucher disease
  • Glucosylceramide
  • Lipid
  • Lysosomal storage disorders
  • Neurodegenerative diseases
  • Parkinson's disease
  • Parkinsonism
  • Synuclein


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