Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
Identifieur interne : 000332 ( France/Analysis ); précédent : 000331; suivant : 000333Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
Auteurs : Gaëlle Friocourt [France] ; Pascale Marcorelles [France] ; Pascale Saugier-Veber [France] ; Marie-Lise Quille [France] ; Stephane Marret [France] ; Annie Laquerrière [France]Source :
- Acta Neuropathologica [ 0001-6322 ] ; 2010.
Abstract
Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. It is characterized by the absence of gyri and a thickening of the cerebral cortex and can be associated with other brain and visceral anomalies. Since the discovery of the first genetic cause (deletion of chromosome 17p13.3), six additional genes have been found to be responsible for agyria–pachygyria. In this review, we summarize the current knowledge concerning these genetic disorders including clinical, neuropathological and molecular results. Genetic alterations of
Url:
DOI: 10.1007/s00401-010-0768-9
PubMed: 21046408
PubMed Central: 3037170
Affiliations:
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PMC:3037170Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. It is characterized by the absence of gyri and a thickening of the cerebral cortex and can be associated with other brain and visceral anomalies. Since the discovery of the first genetic cause (deletion of chromosome 17p13.3), six additional genes have been found to be responsible for agyria–pachygyria. In this review, we summarize the current knowledge concerning these genetic disorders including clinical, neuropathological and molecular results. Genetic alterations of <italic>LIS1, DCX, ARX, TUBA1A, VLDLR, RELN</italic>
and more recently <italic>WDR62</italic>
genes cause migrational abnormalities along with more complex and subtle anomalies affecting cell proliferation and differentiation, i.e., neurite outgrowth, axonal pathfinding, axonal transport, connectivity and even myelination. The number and heterogeneity of clinical, neuropathological and radiological defects suggest that type I lissencephaly now includes several forms of cerebral malformations. In vitro experiments and mutant animal studies, along with neuropathological abnormalities in humans are of invaluable interest for the understanding of pathophysiological mechanisms, highlighting the central role of cytoskeletal dynamics required for a proper achievement of cell proliferation, neuronal migration and differentiation.</p>
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</back>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Haute-Normandie</li>
<li>Région Bretagne</li>
<li>Région Normandie</li>
</region>
<settlement><li>Brest</li>
<li>Rouen</li>
</settlement>
</list>
<tree><country name="France"><region name="Région Bretagne"><name sortKey="Friocourt, Gaelle" sort="Friocourt, Gaelle" uniqKey="Friocourt G" first="Gaëlle" last="Friocourt">Gaëlle Friocourt</name>
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<name sortKey="Friocourt, Gaelle" sort="Friocourt, Gaelle" uniqKey="Friocourt G" first="Gaëlle" last="Friocourt">Gaëlle Friocourt</name>
<name sortKey="Friocourt, Gaelle" sort="Friocourt, Gaelle" uniqKey="Friocourt G" first="Gaëlle" last="Friocourt">Gaëlle Friocourt</name>
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<name sortKey="Marret, Stephane" sort="Marret, Stephane" uniqKey="Marret S" first="Stephane" last="Marret">Stephane Marret</name>
<name sortKey="Marret, Stephane" sort="Marret, Stephane" uniqKey="Marret S" first="Stephane" last="Marret">Stephane Marret</name>
<name sortKey="Quille, Marie Lise" sort="Quille, Marie Lise" uniqKey="Quille M" first="Marie-Lise" last="Quille">Marie-Lise Quille</name>
<name sortKey="Quille, Marie Lise" sort="Quille, Marie Lise" uniqKey="Quille M" first="Marie-Lise" last="Quille">Marie-Lise Quille</name>
<name sortKey="Quille, Marie Lise" sort="Quille, Marie Lise" uniqKey="Quille M" first="Marie-Lise" last="Quille">Marie-Lise Quille</name>
<name sortKey="Saugier Veber, Pascale" sort="Saugier Veber, Pascale" uniqKey="Saugier Veber P" first="Pascale" last="Saugier-Veber">Pascale Saugier-Veber</name>
<name sortKey="Saugier Veber, Pascale" sort="Saugier Veber, Pascale" uniqKey="Saugier Veber P" first="Pascale" last="Saugier-Veber">Pascale Saugier-Veber</name>
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</tree>
</affiliations>
</record>
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