Prolongation of post‐tetanic facilitation in infant botulism

Fakadej, Alexander V.; Gutmann, Ludwig

doi:10.1002/mus.880050911

Cited by 40 publications

(15 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Posttetanic potentiation lasts approximately 2 minutes in normal individuals, 19 but can be prolonged in LEMS with a decay time constant that is increased with cooling, implying a relationship to calcium clearance from the presynaptic terminal. 20 Posttetanic potentiation can also last up to 21 minutes in infantile botulism, 21 another cause of reduced presynaptic transmitter release; however, our finding of potentiation lasting up to 60 minutes is unique.…”

mentioning

confidence: 74%

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

et al. 2015

View full text Add to dashboard Cite

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. Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by abnormal signal transmission between motor axons and skeletal muscle. Methods:1 Mutations in an increasing number of presynaptic proteins, components of the synaptic basal lamina, proteins involved in endplate development and maintenance, and more recently in protein glycosylation 2 have been reported, causing novel and complex phenotypes. Since most CMS are treatable, diagnosing them is of utmost importance.Signal transmission at the neuromuscular junction is mediated via the release of acetylcholine from synaptic vesicles.3 This process is rendered calcium sensitive by members of the synaptotagmin protein family, which also have a role in vesicle priming and in reducing spontaneous transmitter release.4,5 Synaptotagmin II (SYT2) is the major isoform expressed at the neuromuscular junction, and Syt2 knockout mice show markedly reduced calcium-evoked transmitter release.6 Synaptotagmins interact with SNAP-25, 5 and mutations in SNAP25B have been described in patients with myasthenia and additional CNS phenotypes. Herein, we describe the clinical and electrophysiologic characteristics of 2 multigenerational families displaying a novel human motor syndrome caused by dominant SYT2 mutations: c.920T.G

show abstract

mentioning

confidence: 74%

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

et al. 2015

View full text Add to dashboard Cite

show abstract

“…18 Long runs of repetitive stimulation at fast rates (50 Hz for 10 s) have been found to induce prominent incremental responses. 16 However, this phenomenon has been mainly seen in infant botulism and in patients intoxicated with botulinum toxin B, 9,10,16,30 which has a different target from the one affected by botulinum toxin A. 39,40 In 1 of our patients (patient 3) treated for several weeks for ''myasthenia,'' there was decrement in response to nerve stimulation at high rates.…”

Section: Discussionmentioning

confidence: 96%

Cluster of wound botulism in California: Clinical, electrophysiologic, and pathologic study

et al. 1997

View full text Add to dashboard Cite

“…In some, but not all, cases of botulism, PTF of 40% or more can persist for several minutes. 37,44,45 PTF may be absent in severely affected muscles. It has been estimated that 62% of the patients with botulism show an incremental pattern.…”

mentioning

confidence: 99%