Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome
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; Lochmüller, Hanns; Littleton, J. Troy; ... Show more Show less
DownloadJTroyLIttleton2.pdf (370.2Kb)
OPEN_ACCESS_POLICY
Open Access Policy
Creative Commons Attribution-Noncommercial-Share Alike
Alternative title
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
Terms of use
Metadata
Show full item recordAbstract
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.
Date issued
2015-12Department
Massachusetts Institute of Technology. Department of Biology; Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences; Picower Institute for Learning and MemoryJournal
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.
Version: Author's final manuscript
ISSN
0028-3878
1526-632X