Question

Explain the anatomical and functional defect in one of these genetic mutations.

o Lissencephaly, weaver or reelin

Answer 1

Lissencephaly:
Meaning = Smooth brain
A rare genetic disorder in which the whole or parts of the brain appear smooth.
It is caused by abnormal neural migration during 12-24 weeks of gestation leading to the loss of gyri and sulci formation. It is a cephalic disorder characterized by the significant developmental delay with variable expressivity.

Symptoms:
1. Psychomotor impairment,
2. Seizures
3. Muscle spasticity

There are two types of Lissencephaly.
Type I: Thickened cortex with four layers of the cerebral cortex
Type II: Pebbled appearance of the cortical surface