[Show abstract][Hide abstract] ABSTRACT: Cortical neurons of the superficial layers (II-IV) represent a pivotal neuronal population involved in the higher cognitive functions of the human and are particularly affected by psychiatric diseases with developmental manifestations such as schizophrenia and autism. Differentiation protocols of human pluripotent stem cells (PSC) into cortical neurons have been achieved, opening the way to in vitro modeling of neuropsychiatric diseases. However, these protocols commonly result in the asynchronous production of neurons typical for the different layers of the cortex within an extended period of culture, thus precluding the analysis of specific subtypes of neurons in a standardized manner. Addressing this issue, we have successfully captured a stable population of self-renewing late cortical progenitors (LCPs) that synchronously and massively differentiate into glutamatergic cortical neurons of the upper layers. The short time course of differentiation into neurons of these progenitors has made them amenable to high-throughput assays. This has allowed us to analyze the capability of LCPs at differentiating into post mitotic neurons as well as extending and branching neurites in response to a collection of selected bioactive molecules. LCPs and cortical neurons of the upper layers were successfully produced from patient-derived-induced PSC, indicating that this system enables functional studies of individual-specific cortical neurons ex vivo for disease modeling and therapeutic purposes.
[Show abstract][Hide abstract] ABSTRACT: Neuronal heterotopia is a migration disorder in which these cells do not complete their movement toward the cerebral cortex. Periventricular nodular heterotopia is the most frequently reported form, characterized by neuronal conglomerates adjacent to the lateral ventricles walls. About 90 % of patients with this condition suffer epilepsy at some point in their life and the major proportion of them will be resistant to pharmacologic treatment. This makes necessary an appropriate diagnostic approach to determine which patients would benefit from surgical resection of the lesion, which in most cases offers a high rate of crisis control. Development: This article presents a review of the most important topics from practice about periventricular nodular heterotopia pathophysiology, clinical features, diagnostic and therapeutic approach. Its aim is to
explore the role of this condition as a cause of intractable epilepsy. Conclusion: Pharmacologic treatment resistant epilepsy will have a severe impact on patient’s quality of life. Periventricular nodular heterotopia is frequently associated to this condition, which must be successfully approached by the medical team attempting to opportune diagnosis and defining which patients benefit from surgical management. This positively impacts the quality of life of these patients and their caregivers.
Revista Ciencias de la Salud 06/2014; 12(3):423.
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