Journal
MOVEMENT DISORDERS
Volume 34, Issue 5, Pages 614-624Publisher
WILEY
DOI: 10.1002/mds.27631
Keywords
genetics; lysosomal storage disease; movement disorders; Parkinson's disease
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Funding
- NIH [T32NS041234, R01 NS076054, R37 NS096241, R01 NS096240]
- Huffington Foundation
- Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
- Career Award for Medical Scientists from the Burroughs Welcome Fund
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Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal-recessive or X-linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates. Although lysosomal storage disorders are diagnosed predominantly in children, many show variable expressivity with clinical presentations possible later in life. Given the important role of lysosomes in neuronal homeostasis, neurological manifestations, including movement disorders, can accompany many lysosomal storage disorders. Over the last decade, evidence from genetics, clinical epidemiology, cell biology, and biochemistry have converged to implicate links between lysosomal storage disorders and adult-onset movement disorders. The strongest evidence comes from mutations in Glucocerebrosidase, which cause Gaucher's disease and are among the most common and potent risk factors for PD. However, recently, many additional lysosomal storage disorder genes have been similarly implicated, including SMPD1, ATP13A2, GALC, and others. Examination of these links can offer insight into pathogenesis of PD and guide development of new therapeutic strategies. We systematically review the emerging genetic links between lysosomal storage disorders and PD. (c) 2019 International Parkinson and Movement Disorder Society
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