Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome
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Author(s)
Whittaker, Roger G.
Herrmann, David N.
Bansagi, Boglarka
Hasan, Bashar Awwad Shiekh
Lofra, Robert Muni
Logigian, Eric L.
Sowden, Janet E.
Almodovar, Jorge L.
Zuchner, Stephan
Horvath, Rita
Alternative Title
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
Date Issued
December 2015
Journal
Neurology
Publisher
American Academy of Neurology (AAN)
Citation
Whittaker, Roger G., David N. Herrmann, Boglarka Bansagi, Bashar Awwad Shiekh Hasan, Robert Muni Lofra, Eric L. Logigian, Janet E. Sowden, et al. “ Electrophysiologic Features of SYT2 Mutations Causing a Treatable Neuromuscular Syndrome .” Neurology 85, no. 22 (December, 2015): 1964-1971.
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Author's final manuscript
Abstract
Objectives: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to modulators of acetylcholine release.
Methods: We performed detailed clinical and neurophysiologic assessment in 2 multigenerational families with dominant SYT2 mutations (c.920T>G [p.Asp307Ala] and c.923G>A [p.Pro308Leu]). Serial clinical and electrophysiologic assessments were performed in members of one family treated first with pyridostigmine and then with 3,4-diaminopyridine.
Results: Electrophysiologic testing revealed features indicative of a presynaptic deficit in neurotransmitter release with posttetanic potentiation lasting up to 60 minutes. Treatment with 3,4-diaminopyridine produced both a clinical benefit and an improvement in neuromuscular transmission.
Conclusion: SYT2 mutations cause a novel and potentially treatable complex presynaptic congenital myasthenic syndrome characterized by motor neuropathy causing lower limb wasting and foot deformities, with reflex potentiation following exercise and a uniquely prolonged period of posttetanic potentiation.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences
Picower Institute for Learning and Memory
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DOI of Published Version
https://doi.org/10.1212/wnl.0000000000002185
