Double seronegative myasthenia gravis with low density lipoprotein-4 (LRP4) antibodies presenting with isolated ocular symptoms

Tsivgoulis, Georgios; Dervenoulas, George; Kokotis, Panagiotis; Zompola, Christina; Tzartos, John; Voumvourakis, Konstantinos

doi:10.1016/j.jns.2014.09.013

Cited by 28 publications

(28 citation statements)

References 9 publications

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“…Other published studies are case reports or small case series. Out of three LRP4/SN patients with the ocular form of MG described by Tsivgoulis et al . the RNS test was positive in only one, single fiber EMG (SFEMG) in another one, and one patient with a negative RNS test refused SFEMG.…”

Section: Discussionmentioning

confidence: 86%

Electrophysiological findings in patients with low density lipoprotein receptor related protein 4 positive myasthenia gravis

Nikolić

Bojic

Stojanovic

et al. 2016

Euro J of Neurology

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Section: Discussionmentioning

confidence: 86%

Electrophysiological findings in patients with low density lipoprotein receptor related protein 4 positive myasthenia gravis

Nikolić

Bojic

Stojanovic

et al. 2016

Euro J of Neurology

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“…Distinct ALS and MG populations are seropositive for LRP4 autoantibodies (Tsivgoulis et al, 2014; Tzartos et al, 2014) and double seronegative for Agrin or MuSK, suggesting that seropositivity is not a byproduct of generalized NMJ breakdown. Further, injection of LRP4 function-blocking antibodies into mice recapitulates MG (Shen et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Presynaptic LRP4 promotes synapse number and function of excitatory CNS neurons

Mosca

Luginbuhl

Wang

et al. 2017

eLife

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Precise coordination of synaptic connections ensures proper information flow within circuits. The activity of presynaptic organizing molecules signaling to downstream pathways is essential for such coordination, though such entities remain incompletely known. We show that LRP4, a conserved transmembrane protein known for its postsynaptic roles, functions presynaptically as an organizing molecule. In the Drosophila brain, LRP4 localizes to the nerve terminals at or near active zones. Loss of presynaptic LRP4 reduces excitatory (not inhibitory) synapse number, impairs active zone architecture, and abolishes olfactory attraction - the latter of which can be suppressed by reducing presynaptic GABAB receptors. LRP4 overexpression increases synapse number in excitatory and inhibitory neurons, suggesting an instructive role and a common downstream synapse addition pathway. Mechanistically, LRP4 functions via the conserved kinase SRPK79D to ensure normal synapse number and behavior. This highlights a presynaptic function for LRP4, enabling deeper understanding of how synapse organization is coordinated.DOI: http://dx.doi.org/10.7554/eLife.27347.001

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“…Recent work implicated LRP4 in both amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG), two debilitating motor disorders with a worldwide prevalence of ~1/5000. Distinct ALS and MG populations are seropositive for LRP4 autoantibodies 84,85 and double seronegative for Agrin or MuSK, suggesting that seropositivity is not a byproduct of generalized NMJ breakdown. Further, injection of LRP4 function-blocking antibodies into mice recapitulates MG 86 .…”

Section: Connecting Lrp4 and Human Diseasementioning

confidence: 99%

Presynaptic LRP4 Promotes Synapse Number and Function of Excitatory CNS Neurons

Mosca

Luginbuhl

Wang

et al. 2017

Preprint

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SUMMARYPrecise coordination of synaptic connections ensures proper information flow within circuits. The activity of presynaptic organizing molecules signaling to downstream pathways is essential for such coordination, though such entities remain incompletely known. We show that LRP4, a conserved transmembrane protein known for its postsynaptic roles, functions presynaptically as an organizing molecule. In the Drosophila brain, LRP4 preferentially localizes to excitatory neuron terminals at or near active zones. Loss of presynaptic LRP4 reduces excitatory (not inhibitory) synapse number, impairs active zone architecture, and abolishes olfactory attraction -the latter of which can be suppressed by reducing presynaptic GABAB receptors. LRP4 overexpression increases synapse number in excitatory and inhibitory neurons, suggesting an instructive role and a common downstream synapse addition pathway. Mechanistically, LRP4 functions via the conserved kinase SRPK79D to ensure normal synapse number and behavior. This highlights a presynaptic function for LRP4, enabling deeper understanding of how synapse organization is coordinated.

show abstract

Double seronegative myasthenia gravis with low density lipoprotein-4 (LRP4) antibodies presenting with isolated ocular symptoms

Cited by 28 publications

References 9 publications

Electrophysiological findings in patients with low density lipoprotein receptor related protein 4 positive myasthenia gravis

Electrophysiological findings in patients with low density lipoprotein receptor related protein 4 positive myasthenia gravis

Presynaptic LRP4 promotes synapse number and function of excitatory CNS neurons

Presynaptic LRP4 Promotes Synapse Number and Function of Excitatory CNS Neurons

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