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Cortical Malformations
Related neuronal migration disorders
Variant lissencephalies: describes conditions associated with classical lissencephaly, but also additional distinguishing abnormalities, like severe cerebellar hypoplasia (Lissencephaly with Cerebellar Hypoplasia, LCH) or absence of the corpus callosum (Lissencephaly with Agenesis of the Corpus Callosum, LACC). Autosomal recessive inheritance has been reported. Mutations in the RELN and VLDLR genes have been found in a few families with LCH.
X-linked lissencephaly with abnormal genitalia: this condition only affects males and is characterized by lissencephaly, absence of the corpus callosum and small basal ganglia associated with underdeveloped genitalia. The prognosis is poor. Mutations in the ARX gene have been identified.
Periventricular nodular heterotopia (PVNH): this condition is also a neuronal migration disorder. Nerve cells, which have failed to migrate to the cortex, line the ventricle in a nodular fashion. Mutations in the FLNA gene on the X-chromosome have been predominantly identified in women with PVNH. An autosomal recessive form of PVNH has been associated with mutations in ARFGEF2.
Lissencephaly
| Other cortical malformations 
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