Lissencephaly

Lissencephaly is a brain malformation in which the cerebral surface has few or no folds because neurons fail to migrate normally during fetal development.

Neuronal migration: The movement of newly formed neurons from their birthplace to their positions in the developing nervous system. In lissencephaly, impaired movement of neurons leaves the cerebral cortex abnormally smooth.
Cerebral cortex: The outer layer of the cerebrum, responsible for many functions including perception, movement, language, and thought. Lissencephaly changes the structure and layering of the cerebral cortex.
Classic lissencephaly: A severe lissencephaly pattern characterized by a markedly smooth cortex and abnormal cortical layering. It is the best-known structural pattern within the lissencephaly spectrum.
Magnetic resonance imaging: An imaging technique that uses magnetic fields and radio waves to produce detailed images of internal structures. MRI reveals the reduced folds and abnormal cortical thickness used to identify lissencephaly.
LIS1: A protein encoded by PAFAH1B1 that helps regulate microtubule-based processes and neuronal migration. LIS1 dysfunction is a major cause of classic lissencephaly.
Cortical lamination: The organization of the cerebral cortex into layers of neurons with distinct positions and connections. Abnormal neuronal migration disrupts the cortical layers characteristic of lissencephaly.
Cerebrum: The largest part of the brain, comprising the cerebral hemispheres and their outer cortex. The malformation affects the developing cerebral hemispheres.
Miller–Dieker syndrome: A genetic syndrome usually caused by a chromosome 17p13.3 deletion and associated with severe lissencephaly. This syndrome is a recognized syndromic cause of severe lissencephaly.
Prenatal diagnosis: The identification of a fetal condition before birth using imaging or laboratory tests. Fetal imaging can detect severe lissencephaly before birth.
PAFAH1B1: A gene on chromosome 17 that encodes LIS1 and is associated with lissencephaly when disrupted. Deletions or pathogenic variants in PAFAH1B1 can cause lissencephaly.

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DyneinRelated: Mutations affecting dynein-linked transport can disrupt neuronal migration and brain development.