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Neuronal migration disorder; Brain MRI, T1 weighted on a transversal plane, of an 8-month old boy with lissencephaly. Note the scarce and wide gyri, mostly on the parietal, temporal and occipital lobes, the absence of a true Sylvian fissure, and the augmented thickness of the gray matter. The boy had a severe developmental delay and seizures ...
Miller-Dieker syndrome, however, has additional deletions of adjacent genes on chromosome 17 causing facial and other congenital abnormalities and defects. [15] This mutation full or deletion of chromosome 17p13.3 leads to inadequate neuronal migration due to LIS1 encoding for an enzyme that interacts with the microtubule protein dynein. [11]
Incomplete neuronal migration during the early fetal brain development is the precursor to lissencephaly. [5] Should neurons follow an abnormal migration during development possible cortical malformations include classical lissencephaly (as stated above) and subcortical band heterotopia with an agyria-pachygyria band spectrum.
Gray matter heterotopia are common malformations of cortical development known as neuronal migration disorders. Heterotopias are classed in two groups: nodular and diffuse. Nodular types are subependymal and subcortical; diffuse types are termed band heterotopias. Affected patients are generally divided into three groups, depending on the ...
Double cortex syndrome is characterized by abnormal migration of neural tissue during development which results in two bands of misplaced neurons within the subcortical white, generating two cortices, giving the name to the syndrome; this finding generally occurs in females. [13]
Polymicrogyria is a disorder of neuronal migration, resulting in structurally abnormal cerebral hemispheres. The Greek roots of the name describe its salient feature: many [poly] small [micro] gyri (convolutions in the surface of the brain).
ACTG1 is the same gene that, when mutated, causes Baraitser-Winter syndrome. [28] A loss-of-function mutation in the Doublesex- and Mab-3–Related Transcription factor A2 (DMRTA2, also known as DMRT5) gene has been reported in a case of microlissencephaly, implicating DMRTA2 as a critical regulator of cortical neural progenitor cell dynamics. [29]
Pages in category "Neuronal migration disorders" The following 5 pages are in this category, out of 5 total. ... Congenital bilateral perisylvian syndrome; L.