Regulation of Glial Function by Noncoding RNA in Central Nervous System Disease / 神经科学通报·英文版

Non-coding RNAs (ncRNAs) are a class of functional RNAs that play critical roles in different diseases. NcRNAs include microRNAs, long ncRNAs, and circular RNAs. They are highly expressed in the brain and are involved in the regulation of physiological and pathophysiological processes of central nervous system (CNS) diseases. Mounting evidence indicates that ncRNAs play key roles in CNS diseases. Further elucidating the mechanisms of ncRNA underlying the process of regulating glial function that may lead to the identification of novel therapeutic targets for CNS diseases.

Desenvolvimento infantil e suas respectivas fases motoras / Child development and their respective motor phases

O desenvolvimento infantil é primordial para a progressão contínua no processo de desenvolvimento de um indivíduo. Antes do nascimento da criança é formado o molde de uma construção cerebral que vai se definindo através da influencia genética e sua relação com o ambiente em que a criança está inserida nos anos iniciais de vida. A maturação do Sistema Nervoso Central (SNC) possibilita o processo de progressão do desenvolvimento motor no decorrer dos anos.

Child development is paramount to continuous progress in an individual's developmental process. Before the birth of the child is formed or the mold of a brain construction that will be defined through genetic influence and its relationship to the environment in which the child is inserted in the early years of life. Central Nervous System (CNS) maturation enables the process of motor development progression over the years

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.

The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.

Enfermedades neurogenéticas en niños y adolescentes / Neurogenetics diseases in children y adolescents

Los avances en el conocimiento de la genética, han modificado en forma determinante la práctica de la Neurología clínica, aportando a una explosiva expansión del área de las enfermedades Neurogenéticas. El advenimiento de nuevas técnicas de genética molecular; las investigaciones en el genoma humano y la descripción de nuevas formas de herencia, han contribuido a la comprensión de la fisiopatología de estas condiciones y han abierto nuevas perspectivas para su tratamiento. En este articulo se describen los mecanismos clásicos y "no tradicionales" de herencia de las enfermedades neurogenéticas, se destaca los elementos cínicos que orientan a su diagnóstico y se revisa las enfermedades de diagnóstico más frecuente: su presentación clínica, las correlaciones genotipo/fenotipo, los estudios recomendados para su diagnóstico y consejo genético.

The great advances in genetic research reached during last years, have deeply modified the routine clinical practice in Neurology, with an specific impact in the expanding field of neurogenetíc dísorders. New technologies in molecular genetics, the research in the human genome and the description of new forms of inheritance have contributed to the understanding of the physíopathology of these conditions and ha ve also open new perspectives to their treatment. In this report we describe classic and "non traditional" mechanisms of inheritance of neurogenetic disorders, highlighting the key clinical fea tu res to suspect their diagnosis. The most frequent neurogenetic disorders are reviewed, special/y regarding their clinical presentation, genotype/phenotype correlation, recommended methodology used for the diagnosis and genetíc counseling.