Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression
1
CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada
2
Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada
3
Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(3), 616; https://doi.org/10.3390/jcm9030616
Received: 31 January 2020 / Revised: 21 February 2020 / Accepted: 21 February 2020 / Published: 25 February 2020
(This article belongs to the Special Issue Lysosomal Storage Disorders: Causes, Symptoms, Diagnosis, and Treatment)
About two thirds of the patients affected with lysosomal storage diseases (LSD) experience neurological manifestations, such as developmental delay, seizures, or psychiatric problems. In order to develop efficient therapies, it is crucial to understand the neuropathophysiology underlying these symptoms. How exactly lysosomal storage affects biogenesis and function of neurons is still under investigation however recent research highlights a substantial role played by synaptic defects, such as alterations in synaptic spines, synaptic proteins, postsynaptic densities, and synaptic vesicles that might lead to functional impairments in synaptic transmission and neurodegeneration, finally culminating in massive neuronal death and manifestation of cognitive symptoms. Unveiling how the synaptic components are affected in neurological LSD will thus enable a better understanding of the complexity of disease progression as well as identify crucial targets of therapeutic relevance and optimal time windows for targeted intervention.
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Keywords:
Lysosomal storage diseases; synaptic dysfunction; synaptic spines; mucopolysaccharidosis; Batten disease; NCL; Niemann-Pick type C; gangliosidosis; Krabbe disease
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MDPI and ACS Style
Pará, C.; Bose, P.; Pshezhetsky, A.V. Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression. J. Clin. Med. 2020, 9, 616. https://doi.org/10.3390/jcm9030616
AMA Style
Pará C, Bose P, Pshezhetsky AV. Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression. Journal of Clinical Medicine. 2020; 9(3):616. https://doi.org/10.3390/jcm9030616
Chicago/Turabian StylePará, Camila; Bose, Poulomee; Pshezhetsky, Alexey V. 2020. "Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression" J. Clin. Med. 9, no. 3: 616. https://doi.org/10.3390/jcm9030616
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