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Lookup NU author(s): Professor Roger Whittaker, Dr Boglarka Bansagi, Professor Rita HorvathORCiD, Professor Hanns Lochmuller
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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.
Author(s): Whittaker RG, Herrmann DN, Bansagi B, Hasan BAS, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmuller H
Publication type: Article
Publication status: Published
Journal: Neurology
Year: 2015
Volume: 85
Issue: 22
Pages: 1964-1971
Print publication date: 01/12/2015
Online publication date: 30/10/2015
Acceptance date: 06/08/2015
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
URL: http://dx.doi.org/10.1212/WNL.0000000000002185
DOI: 10.1212/WNL.0000000000002185
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