Cobblestone lissencephaly is associated with abnormalities in fukutin, a gene responsible for Fukuyama muscular dystrophy , a syndrome consisting of muscle weakness and cobblestone lissencephaly.
Type II, or "cobblestone" lissencephaly, is characterized by a bumpy appearance of the abnormal surface of the brain. The cortex in Type II lissencephaly is completely abnormal and there are no distinguishable layers
Type I, also known as classical lissencephaly, is distinguished by the smooth surface of the cerebral cortex and an abnormal four-layered cortex. Classical lissencephaly can be associated with abnormalities of the rest of the brain
The first gene causing lissencephaly, LIS1, was identified in patients with Miller-Dieker syndrome, a genetic syndrome caused by deletions of chromosome 17 that is a combination of lissencephaly and other facial deformities
Type I lissencephaly is more common and comprises 43% of lissencephaly syndromes in some studies. Type II lissencephaly accounted for 14% of lissencephalies
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In lissencephaly or agyria, neuronal migration fails globally, causing the brain to appear completely smooth and have abnormal layering in the cortex.
Periventricular heterotopia is associated with abnormalities of the filamin1 gene on the X chromosome.
Due to developmental disability, children with lissencephaly who survive beyond the age of two may benefit from special education programs
The most well characterized genes include DCX on the X chromosome, responsible for double cortex syndrome, and LIS1 on chromosome 17, the first gene identified for lissencephaly.
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Lissencephaly is part of a spectrum of brain malformations, which are referred to as the agyriapachygyria-band spectrum and are caused by abnormalities in neuronal migration, a critical process in brain development
Lissencephaly was first described by Owen in 1868 and means "smooth brain," which describes the gross appearance of the brain. Microscopically, the brain appears abnormally thick and disorganized