A new <i>de novo SYT2</i> mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

Fionda, Laura; Turón-Sans, Janina; Fuentes‐Prior, Pablo; Bernal, Sara; Cortés-Vicente, Elena; López-Pérez, María A; Gallardo, Eduard; Rojas‐García, Ricard

doi:10.1111/jns.12425

Cited by 6 publications

(7 citation statements)

References 13 publications

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“…Deficiency in SYT1 leads to synaptic dysfunction and neurodevelopmental disorders (Baker et al., 2018). SYT2 mutations result in severe and early‐onset presynaptic congenital myasthenic syndrome (CMS) (Bauché et al., 2020; Fionda et al., 2021). SYT3, as a calcium‐dependent membrane transport protein, drives vesicle replenishment and increases the size of the readily releasable pool (Weingarten et al., 2022).…”

Section: Role Of Synaptic Plasticity‐related Proteins In Maintaining ...mentioning

confidence: 99%

Advancements in the study of synaptic plasticity and mitochondrial autophagy relationship

Zhu,

Hui,

Zhang

et al. 2024

J of Neuroscience Research

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Synapses serve as the points of communication between neurons, consisting primarily of three components: the presynaptic membrane, synaptic cleft, and postsynaptic membrane. They transmit signals through the release and reception of neurotransmitters. Synaptic plasticity, the ability of synapses to undergo structural and functional changes, is influenced by proteins such as growth‐associated proteins, synaptic vesicle proteins, postsynaptic density proteins, and neurotrophic growth factors. Furthermore, maintaining synaptic plasticity consumes more than half of the brain's energy, with a significant portion of this energy originating from ATP generated through mitochondrial energy metabolism. Consequently, the quantity, distribution, transport, and function of mitochondria impact the stability of brain energy metabolism, thereby participating in the regulation of fundamental processes in synaptic plasticity, including neuronal differentiation, neurite outgrowth, synapse formation, and neurotransmitter release. This article provides a comprehensive overview of the proteins associated with presynaptic plasticity, postsynaptic plasticity, and common factors between the two, as well as the relationship between mitochondrial energy metabolism and synaptic plasticity.

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Section: Role Of Synaptic Plasticity‐related Proteins In Maintaining ...mentioning

confidence: 99%

Advancements in the study of synaptic plasticity and mitochondrial autophagy relationship

Zhu,

Hui,

Zhang

et al. 2024

J of Neuroscience Research

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“…Vesicular acetylcholine transporter (VAchT), encoded by SLC18A3 and, like SLC5A7, participates in ACh recycling [10]. Impairment of docking, priming, fusion or exocytosis may result from mutations in one of the genes -SNAP25, VAMP1, SYB1, SYT2, UNC13A1, PREPL, however, this is a very rare cause of CMS [11][12][13][14][15][16]. Synaptic CMS may be associated with acetylcholinesterase (AChE) endplate deficiency or with defects in AChR clustering pathway.…”

Section: Description Of the State Of Knowledgementioning

confidence: 99%

Congenital myasthenic syndromes (CMS) a rare cause of uncommon fatigue

Lejman

Panuciak

Nowicka

et al. 2022

J Educ Health Sport

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Introduction and purpose: Muscle weakness in newborns, infants and young children can be caused by disorders of the neuromuscular junction (NMJ). Congenital myasthenic syndromes (CMS) are a group of rare genetic diseases whose symptoms resemble the clinical picture of autoimmune myasthenia gravis. There are many mutations that can disrupt the neuromuscular transmission leading to pathology. The diagnosis of CMS is based on genetic testing. The aim of this study is to draw clinicians' attention to the symptoms and present current forms of CMS diagnosis and management. State of knowledge: An increasing number of genetic changes are associated with CMS pathology. They are divided, depending on the location in the NMJ of the encoded protein, into presynaptic, synaptic and postsynaptic. The most common disorder is the mutation of CHRNE, which is responsible for the expression of one of the subunits in the structure of the acetylcholine receptor. Regardless of the type of disease, the characteristic symptom is uncommon fatigue of skeletal muscles. It may present as ptosis of one or both eyelids or gait disturbance. The interview, laboratory tests and EMG are helpful in the diagnosis, but genetic tests play a key role. They can target specific mutations or cover the entire genome comprehensively. Currently used drugs alleviate the course of CMS by increasing the release of acetylcholine or increasing the concentration of acetylcholine in the synaptic cleft. Conclusion: Because of its rarity and variability, many CMS patients may be misdiagnosed. It is important to implement extensive genetic diagnostics and early implementation of treatment. There is a need for long-term studies of CMS cases and implementation of therapies targeted at specific mutations.

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“…In Fionda et al ., 1 Figure 1 erroneously included only one part of the image. The correct and complete figure image is shown below.…”

Section: Figurementioning

confidence: 99%

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

2021

J Peripheral Nervous Sys

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A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

Cited by 6 publications

References 13 publications

Advancements in the study of synaptic plasticity and mitochondrial autophagy relationship

Advancements in the study of synaptic plasticity and mitochondrial autophagy relationship

Congenital myasthenic syndromes (CMS) a rare cause of uncommon fatigue

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

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