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Neurulation

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...

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Microcephaly.

Sandrine Passemard¹, Angela M Kaindl, Alain Verloes

¹Department of Genetics, Hôpital Robert Debré, Paris, France; Inserm U676 and Medical School, Denis Diderot-Paris VII University, Paris, France.

Handbook of Clinical Neurology

|April 30, 2013

Summary

This summary is machine-generated.

True microcephaly, a condition of reduced brain growth, stems from an imbalance in brain cell production and death. Genetic factors, DNA repair defects, and metabolic disorders contribute to this developmental condition.

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Area of Science:

Neuroscience
Developmental Biology
Genetics

Background:

Microcephaly is characterized by a reduced brain size, impacting neuronal and glial cell numbers.
It can be primary (congenital) or secondary (postnatal onset), stemming from various cellular and genetic disruptions.
Cognitive functions may be preserved in some microcephaly etiologies despite reduced brain volume.

Purpose of the Study:

To review the genetic etiologies of developmental microcephalies.
To elucidate the cellular mechanisms underlying microcephaly, including progenitor cell dynamics and DNA repair.
To discuss the association of microcephaly with syndromic anomalies and metabolic disorders.

Main Methods:

Review of genetic etiologies for developmental microcephaly.
Analysis of cellular mechanisms: progenitor cell production, cell death, mitotic spindle control, cell cycle kinetics.
Examination of DNA repair pathways (double-strand break, single-strand break, nucleotide excision repair) and their link to microcephaly.
Investigation of neuronal migration and telencephalic cleavage defects.
Assessment of associations with metabolic disorders and chromosomal abnormalities.

Main Results:

Primary microcephalies are often recessive disorders linked to abnormal mitotic spindle and cell cycle control.
Microcephaly frequently indicates defects in DNA repair mechanisms, sometimes with general growth impairment.
Secondary microcephalies involve neuronal migration defects, telencephalic cleavage anomalies, increased neuronal death, and can be linked to metabolic issues.
Microcephaly is a common feature in numerous syndromic congenital anomalies and chromosomal disorders.

Conclusions:

Developmental microcephalies arise from a complex interplay of genetic, cellular, and molecular factors.
Understanding these diverse etiologies is crucial for diagnosis and potential therapeutic strategies.
The review highlights the significant role of progenitor cell regulation and DNA integrity in brain development.