| Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. | |
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MedLine Citation:
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PMID: 20376468 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neuronal migration disorders account for a substantial number of cortical malformations, the most severe forms being represented by lissencephalies. Classical lissencephaly has been shown to result from mutations in LIS1 (PAFAH1B1; MIM#601545), DCX (Doublecortin; MIM#300121), ARX (Aristaless-related homeobox gene; MIM#300382), RELN (Reelin; MIM#600514) and VLDLR (Very low density lipoprotein receptor; MIM#224050). More recently, de novo missense mutations in the alpha-tubulin 1a gene (TUBA1A) located on chromosome 12q13.12, have also been associated with more or less severe defects of cortical development, resulting in complete agyria in the most severe cases of lissencephaly. We report here the cerebral lesions in a 36 weeks' gestation female foetus with a novel de novo missense mutation in the TUBA1A gene, presenting the most severe antenatal phenotype reported so far. Using routine immunohistochemistry and confocal microscopy, we show evidence for defects in axonal transport in addition to defects in neuronal migration and differentiation, giving new insights to the pathophysiology of this form of lissencephaly. |
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Authors:
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Magalie Lecourtois; Karine Poirier; Gaëlle Friocourt; Xavier Jaglin; Alice Goldenberg; Pascale Saugier-Veber; Jamel Chelly; Annie Laquerrière |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-04-08 |
Journal Detail:
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Title: Acta neuropathologica Volume: 119 ISSN: 1432-0533 ISO Abbreviation: Acta Neuropathol. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-07 Completed Date: 2010-08-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: Germany |
Other Details:
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Languages: eng Pagination: 779-89 Citation Subset: IM |
Affiliation:
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Faculty of Medicine, INSERM, U614, IFRMP23, Rouen Institute for Medical Research and Innovation, University of Rouen, Rouen, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Axonal Transport Brain / embryology, pathology Cell Differentiation Cell Movement Cerebellar Diseases / genetics*, pathology* Fatal Outcome Female Fetus / pathology Humans Immunohistochemistry Lissencephaly / genetics*, pathology* Microscopy, Confocal Models, Molecular Mutation, Missense* Neurogenesis Neurons / pathology Phenotype Protein Structure, Secondary Tubulin / chemistry, genetics* |
| Chemical | |
Reg. No./Substance:
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0/TUBA1A protein, human; 0/Tubulin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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