Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Sami Zaqout; Angela M Kaindl

doi:10.3389/fcell.2021.784700

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Front Cell Dev Biol. 2022 Jan 17:9:784700. doi: 10.3389/fcell.2021.784700. eCollection 2021.

Authors

Sami Zaqout^{1

2}, Angela M Kaindl^{3

4

5}

Affiliations

¹ Department of Basic Medical Sciences, College of Medicine, QU Health, Qatar University, Doha, Qatar.
² Biomedical and Pharmaceutical Research Unit, QU Health, Qatar University, Doha, Qatar.
³ Institute of Cell and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
⁴ Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité-Universitätsmedizin Berlin, Berlin, Germany.
⁵ Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Abstract

Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex. For MCPH, an accelerating number of mutated genes emerge annually, and they are involved in crucial steps of neurogenesis. In this review article, we provide a deeper look into the microcephalic MCPH brain. We explore cytoarchitecture focusing on the cerebral cortex and discuss diverse processes occurring at the level of neural progenitors, early generated and mature neurons, and glial cells. We aim to thereby give an overview of current knowledge in MCPH phenotype and normal brain growth.

Keywords: MCPH genes; animal models; brain; brain malformation; intellectual disability; microcephaly; neuronal differentiation.

Publication types

Review