Polymicrogyria: Difference between revisions
imported>Daniel Mietchen (-reflist) |
imported>Daniel Mietchen (slight rewording) |
||
| Line 2: | Line 2: | ||
{{DirectRef}} | {{DirectRef}} | ||
'''Polymicrogyria''' (also known as ''cobblestone lissencephaly'') is a [[neurodevelopmental disorder]] with abnormal [[gyrification]] of the [[cerebral cortex]]: Instead of the few and large convolutions ([[gyrus|gyri]]) typical for normal [[brain development]], multiple small convolutions occur, in the result of which the [[brain surface]] appears [[pebble]]d. Further diagnostic criteria include [[white matter]] reduction, [[brain ventricle|ventricular]] enlargement, and [[hypoplasia]] of the [[brainstem]] and [[cerebellum]] ([[CZ:Ref:Pabuşçu 2002 Walker–Warburg syndrome variant|Pabuşçu et al., 2002]]; [[CZ:Ref:Jansen 2005 Genetics of the polymicrogyria syndromes|Jansen and Andermann, 2005]]). At least two genes have been found to be associated with polymicrogyria -- [[GPR56 (gene)|GPR56]] ([[CZ:Ref:Piao 2004 G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex|Piao et al., 2004]]) and [[AHI1 (gene)|AHI1 gene]], though the latter is only one aspect of a wider disorder, [[Joubert syndrome]] ([[CZ:Ref:Dixon-Salazar 2004 Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria|Dixon-Salazar et al., 2004]]). | '''Polymicrogyria''' (also known as ''cobblestone lissencephaly'') is a [[neurodevelopmental disorder]] with abnormal [[gyrification]] of the [[cerebral cortex]]: Instead of the few and large convolutions ([[gyrus|gyri]]) typical for normal [[brain development]], multiple small convolutions occur, in the result of which the [[brain surface]] appears [[pebble]]d. Further diagnostic criteria include [[white matter]] reduction, [[brain ventricle|ventricular]] enlargement, and [[hypoplasia]] of the [[brainstem]] and [[cerebellum]] ([[CZ:Ref:Pabuşçu 2002 Walker–Warburg syndrome variant|Pabuşçu et al., 2002]]; [[CZ:Ref:Jansen 2005 Genetics of the polymicrogyria syndromes|Jansen and Andermann, 2005]]). At least two genes have been found to be associated with polymicrogyria -- [[GPR56 (gene)|GPR56]] ([[CZ:Ref:Piao 2004 G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex|Piao et al., 2004]]) and [[AHI1 (gene)|AHI1 gene]], though in the latter case, polymicrogyria is only one aspect of a wider disorder, [[Joubert syndrome]] ([[CZ:Ref:Dixon-Salazar 2004 Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria|Dixon-Salazar et al., 2004]]). | ||
Revision as of 04:27, 2 February 2009
This article uses direct referencing.
Polymicrogyria (also known as cobblestone lissencephaly) is a neurodevelopmental disorder with abnormal gyrification of the cerebral cortex: Instead of the few and large convolutions (gyri) typical for normal brain development, multiple small convolutions occur, in the result of which the brain surface appears pebbled. Further diagnostic criteria include white matter reduction, ventricular enlargement, and hypoplasia of the brainstem and cerebellum (Pabuşçu et al., 2002; Jansen and Andermann, 2005). At least two genes have been found to be associated with polymicrogyria -- GPR56 (Piao et al., 2004) and AHI1 gene, though in the latter case, polymicrogyria is only one aspect of a wider disorder, Joubert syndrome (Dixon-Salazar et al., 2004).