Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle

Journal of Inherited Metabolic Disease
E Cortès-SaladelafontÀngels García-Cazorla

Abstract

The aim of this report is to present a tentative clinical and pathophysiological approach to diseases affecting the neuronal presynaptic terminal, with a major focus on synaptic vesicles (SVs). Diseases are classified depending on which step of the neurobiology of the SV is predominantly affected: (1) biogenesis of vesicle precursors in the neuronal soma; (2) transport along the axon; (3) vesicle cycle at the presynaptic terminal (exocytosis-endocytosis cycle, with the main purpose of neurotransmitter release). Given that SVs have been defined as individual organelles, we highlight the link between the biological processes disturbed by genetic mutations and the clinical presentation of these disorders. The great majority of diseases may present as epileptic encephalopathies, intellectual disability (syndromic or nonsyndromic) with/without autism spectrum disorder (and other neuropsychiatric symptoms), and movement disorders. These symptoms may overlap and present in patients as a combination of clinical signs that results in the spectrum of the synaptopathies. A small number of diseases may also exhibit neuromuscular signs. In general, SV disorders tend to be severe, early encephalopathies that interfere with neurodevelopment. ...Continue Reading

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Citations

Jul 18, 2018·Journal of Inherited Metabolic Disease·Àngels García-Cazorla, Jean-Marie Saudubray
Apr 19, 2020·The Journal of Physiology·Tamara RadulovicSamuel M Young
Nov 30, 2018·Journal of Inherited Metabolic Disease·Àngels García-CazorlaÀlex Bayès
Mar 19, 2019·Journal of Inherited Metabolic Disease·Jean-Marie SaudubrayAngeles Garcia-Cazorla

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