Genetic Causes of Microcephaly and Neuronal Development

Last Updated on June 26, 2025 by Joseph Gut – thasso


Genetics behind microcephaly
Abnormal brain development resulting in intellectual disability is frequently associated with microcephaly (small head). In most cases, microcephaly is equivalent to microencephaly (small brain) and we will be using the terms interchangeably. In a study of children at 7 years old, of those with a head circumference 2 to 3 standard deviations below the mean, 10% had an intelligence quotient (I.Q.) <70 (two standard deviations below the mean) while only 14% had an I.Q. >100, (where I.Q. of 100 is mean). With head circumferences <3 standard deviations below the mean, 51% had an I.Q. <70 while none were above average.
Microcephaly can be developmental resulting from abnormalities of proper development or degenerative with normal development and subsequent loss of cells. Microcephaly vera (true microcephaly), sometimes called primary microcephaly, is a group of autosomal recessive diseases of brain development that results in intellectual disability but not other neurological abnormalities. These patients were thought to have no significant brain malformations other than a small brain, but now it is clear that the phenotypes are not completely uniform, and that there is a continuum between patients that have microcephaly with normal gyral pattern, and microcephaly associated with other malformation Other forms of microcephalies that are very consistently associated with abnormal brain structure, for instance microlissencephaly (small, smooth brain), are interpreted as reflecting a gene’s requirement for both producing the proper number of neurons and subsequent stages of neuronal development. To understand the causes of microcephaly, one must understand the basic processes of brain growth and neuronal proliferation, where many advances have been made in the field over the past two decades.
Thasso had in the past already an article on the role of Zika-Virus in the development of microcephaly.
See here a sequence on the many aspects and causes of microcephaly:
Disclaimer: Images and/or videos (if available) as well as some text passages in this blog may be copyrighted. All rights remain with the owner of these rights.
Leave a Reply
You must be logged in to post a comment.
Optional: Social Subscribe/Login