Journal
MOLECULAR NEUROBIOLOGY
Volume 51, Issue 3, Pages 1554-1568Publisher
SPRINGER
DOI: 10.1007/s12035-014-8832-4
Keywords
Parkinson's disease; Lysosomal storage disorder; Genetics; Gaucher disease; Niemann-Pick disease
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Funding
- National Natural Science Foundation of China [81101339, 81271921]
- Research Fundation for the Doctoral Program of Higher Education of China [20110162110026]
- Sheng Hua Scholars Program of Central South University, China
- Construction Fundation for Key Subjects of the Third Xiangya Hospital, Central South University, China
- Fundamental Research Funds for the Central Universities of Central South University, China [2014zzts360]
- National Parkinson Foundation, USA
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Parkinson's disease is a common progressive neurodegenerative disorder characterized by predominant degeneration of the dopaminergic neurons in the substantia nigra pars compacta and the presence of intracellular inclusions enriched in alpha-synuclein, resulting in a variety motor and nonmotor symptoms. Lysosomal storage disorders are a group of disorders including Gaucher disease, Niemann-Pick disease, and neuronal ceroid lipofuscinoses caused by the defective activity of lysosomal and nonlysosomal proteins. In addition to an overlap in some clinical features between lysosomal storage disorders and Parkinson's disease, the two disorders may be also linked pathogenically. There is growing support for the notion that mutations in genes causing lysosomal storage disorders including the glucocerebrosidase gene, the sphingomyelin phosphodiesterase 1 gene, and the NPC1 gene may increase risk for developing Parkinson's disease. In this review, we discuss the recent advances in the genetic convergence of Parkinson's disease and lysosomal storage disorders, shedding new light on the understanding of shared pathogenic pathways.
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