Is Parkinson's disease a lysosomal disorder?

Andrés D. Klein*, Joseph R. Mazzulli

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


Common forms of Parkinson's disease have long been described as idiopathic, with no single penetrant genetic factor capable of influencing disease aetiology. Recent genetic studies indicate a clear association of variants within several lysosomal genes as risk factors for idiopathic Parkinson's disease. The emergence of novel variants suggest that the aetiology of idiopathic Parkinson's disease may be explained by the interaction of several partially penetrant mutations that, while seemingly complex, all appear to converge on cellular clearance pathways. These newly evolving data are consistent with mechanistic studies linking α-synuclein toxicity to lysosomal abnormalities, and indicate that idiopathic Parkinson's disease resembles features of Mendelian lysosomal storage disorders at a genetic and biochemical level. These findings offer novel pathways to exploit for the development of diseasealtering therapies for idiopathic Parkinson's disease that target specific components of the lysosomal system.

Original languageEnglish (US)
Pages (from-to)2255-2262
Number of pages8
Issue number8
StatePublished - Aug 1 2018

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Is Parkinson's disease a lysosomal disorder?'. Together they form a unique fingerprint.

Cite this