Cortical and subcortical morphological alteration in Angelman syndrome

Du, Xinyue; Wei, Lei; Yang, Baofeng; Long, Shasha; Wang, Ji; Sun, Aiqi; Jiang, Yong‐Hui; Qiao, Zhongwei; Wang, He; Wang, Yi

doi:10.1186/s11689-022-09469-3

Cited by 2 publications

(1 citation statement)

References 54 publications

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“…In healthy individuals, during development, cortical thinning is directly associated with increased cortical connectivity (Ball et al, 2019; Storsve et al, 2016). Most studies on cortical thickness in genetic syndromes associated with intellectual disability have reported a normal hemispheric or global cortical thickness compared to the healthy population, except for significant variations in brain parcel areas, either because they are increased or decreased (Du et al, 2023; Fahim et al, 2012; Giedd et al, 2007; Kippenhan et al, 2005; Levman et al, 2019). On the other hand, cortical thickness in overgrowth syndromes has been scarcely studied; most studies have shown a normal or even decreased cortical thickness (Zamary & Mamlouk, 2022).…”

Section: Discussionmentioning

confidence: 99%

Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Jiménez de la Peña,

Rincón‐Pérez,

López‐Martín

et al. 2023

American J of Med Genetics Pt A

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Tatton‐Brown–Rahman syndrome (TBRS) or DNMT3A‐overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.

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Section: Discussionmentioning

confidence: 99%

Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Jiménez de la Peña,

Rincón‐Pérez,

López‐Martín

et al. 2023

American J of Med Genetics Pt A

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Arc protein, a remnant of ancient retrovirus, forms virus-like particles, which are abundantly generated by neurons during epileptic seizures, and affects epileptic susceptibility in rodent models

Sibarov,

Tsytsarev,

Volnova

et al. 2023

Front. Neurol.

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A product of the immediate early gene Arc (Activity-regulated cytoskeleton-associated protein or Arc protein) of retroviral ancestry resides in the genome of all tetrapods for millions of years and is expressed endogenously in neurons. It is a well-known protein, very important for synaptic plasticity and memory consolidation. Activity-dependent Arc expression concentrated in glutamatergic synapses affects the long-time synaptic strength of those excitatory synapses. Because it modulates excitatory-inhibitory balance in a neuronal network, the Arc gene itself was found to be related to the pathogenesis of epilepsy. General Arc knockout rodent models develop a susceptibility to epileptic seizures. Because of activity dependence, synaptic Arc protein synthesis also is affected by seizures. Interestingly, it was found that Arc protein in synapses of active neurons self-assemble in capsids of retrovirus-like particles, which can transfer genetic information between neurons, at least across neuronal synaptic boutons. Released Arc particles can be accumulated in astrocytes after seizures. It is still not known how capsid assembling and transmission timescale is affected by seizures. This scientific field is relatively novel and is experiencing swift transformation as it grapples with difficult concepts in light of evolving experimental findings. We summarize the emergent literature on the subject and also discuss the specific rodent models for studying Arc effects in epilepsy. We summarized both to clarify the possible role of Arc-related pseudo-viral particles in epileptic disorders, which may be helpful to researchers interested in this growing area of investigation.

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Cortical and subcortical morphological alteration in Angelman syndrome

Cited by 2 publications

References 54 publications

Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

Arc protein, a remnant of ancient retrovirus, forms virus-like particles, which are abundantly generated by neurons during epileptic seizures, and affects epileptic susceptibility in rodent models

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