Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Sidorov, Michael S.; Deck, Gina; Dolatshahi, Marjan; Thibert, Ronald L.; Bird, Lynne M.; Chu, Catherine J.; Philpot, Benjamin D.

doi:10.1186/s11689-017-9210-0

Cited by 4 publications

(4 citation statements)

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“…Although our study returned mostly negative results regarding the potential for IGF-2 to improve behavioral deficits in AS, our findings are nevertheless important to disseminate, as they contrast other recent data [ 47 ]. While we were aiming to corroborate the previous reports of IGF-2 efficacy, as inter-laboratory reproducibility is a long-standing goal of ours, we did establish strong reproducibility with other rat studies [ 16 , 71 – 73 ], EEG and sleep studies [ 72 , 74 – 77 , 82 ], and other genetic mutant mouse models of neurodevelopmental disorders [ 51 , 56 , 78 ]. Furthermore, we did reproduce a number of the Ube3a mat−/pat+ mouse phenotypes observed by Cruz et al specifically hypolocomotion, fewer marbles buried, and poor rotarod performance [ 47 ].…”

Section: Discussionsupporting

confidence: 56%

“…AS model mice on the traditional B6J background do not exhibit spontaneous seizures nor susceptibility to audiogenic seizures [ 69 ]. Because the 129 strain has a 70% reduction in corpus callosum volume which adds to their seizure susceptibility [ 77 , 81 , 82 ], and sensory-dependent audiogenic seizures are triggered by divergent neural circuitry compared to chemo-induction [ 74 ], we utilized the B6J background with a chemo-convulsant.…”

Section: Discussionmentioning

confidence: 99%

“…A more likely explanation for the present data is that the IGF-2-induced delta power reduction was sub-threshold for behavioral change. This is a burgeoning area of study and while many laboratories hypothesize that PSDs are effective biomarkers [72,77,[79][80][81][82], there is still little data characterizing the strength of the relationship(s) between spectral power and behavioral outcomes.…”

Section: Discussionmentioning

confidence: 99%

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Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome

et al. 2021

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Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder for which there is currently no cure or effective therapeutic. Since the genetic cause of AS is known to be dysfunctional expression of the maternal allele of ubiquitin protein ligase E3A (UBE3A), several genetic animal models of AS have been developed. Both the Ube3a maternal deletion mouse and rat models of AS reliably demonstrate behavioral phenotypes of relevance to AS and therefore offer suitable in vivo systems in which to test potential therapeutics. One promising candidate treatment is insulin-like growth factor-2 (IGF-2), which has recently been shown to ameliorate behavioral deficits in the mouse model of AS and improve cognitive abilities across model systems. Methods We used both the Ube3a maternal deletion mouse and rat models of AS to evaluate the ability of IGF-2 to improve electrophysiological and behavioral outcomes. Results Acute systemic administration of IGF-2 had an effect on electrophysiological activity in the brain and on a metric of motor ability; however the effects were not enduring or extensive. Additional metrics of motor behavior, learning, ambulation, and coordination were unaffected and IGF-2 did not improve social communication, seizure threshold, or cognition. Limitations The generalizability of these results to humans is difficult to predict and it remains possible that dosing schemes (i.e., chronic or subchronic dosing), routes, and/or post-treatment intervals other than that used herein may show more efficacy. Conclusions Despite a few observed effects of IGF-2, our results taken together indicate that IGF-2 treatment does not profoundly improve behavioral deficits in mouse or rat models of AS. These findings shed cautionary light on the potential utility of acute systemic IGF-2 administration in the treatment of AS.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Insulin-like growth factor-2 does not improve behavioral deficits in mouse and rat models of Angelman Syndrome

et al. 2021

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“…In fact, in many NDDs, conventional brain imaging is unrevealing; however, functional connectivity may demonstrate deficits [132]. Findings from EEG studies support the dysfunctional connectivity hypothesis in identification of aberrant signaling on event-related potentials and ongoing work in quantitative EEG analyses [133-135]. These studies highlight an important consideration in clinical and translational research programs for the NDDs.…”

Section: Discussionmentioning

confidence: 95%

Gene Transfer Therapy for Neurodevelopmental Disorders

et al. 2021

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Neurodevelopmental disorders (NDDs) include a broad spectrum of disorders that disrupt normal brain development. Though some NDDs are caused by acquired insults (i.e., toxic or infectious encephalopathy) or may be cryptogenic, many NDDs are caused by variants in a single gene or groups of genes that disrupt neuronal development or function. In this review, we will focus on those NDDs with a genetic etiology. The exact mechanism, timing, and progression of the molecular pathology are seldom well known; however, the abnormalities in development typically manifest in similar patterns such as delays or regression in motor function, social skills, and language or cognitive abilities. Severity of impairment can vary widely. At present, only symptomatic treatments are available to manage seizures and behavioral problems commonly seen in NDDs. In recent years, there has been a rapid expansion of research into gene therapy using adeno-associated viruses (AAVs). Using AAVs as vectors to replace the non- or dysfunctional gene in vivo is a relatively simple model which has created an unprecedented opportunity for the future of NDD treatment. Advances in this field are of paramount importance as NDDs lead to a massive lifelong burden of disease on the affected individuals and families. In this article, we review the unique advantages and challenges of AAV gene therapies. We then look at potential applications of gene therapy for 3 of the more common NDDs (Rett syndrome, fragile X syndrome, and Angelman syndrome), as well as 2 less common NDDs (<i>SLC13A5</i> deficiency disorder and <i>SLC6A1</i>-related disorder). We will review the available natural history of each disease and current state of preclinical studies including a discussion on the application of AAV gene therapies for each disease.

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