Aigner, Ludwig and Fluegel, D. and Dietrich, J. and Ploetz, S. and Winkler, J. (2000) Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation. NEUROPEDIATRICS, 31 (4). pp. 195-198. ISSN 0174-304X
Full text not available from this repository. (Request a copy)Abstract
Isolated Lissencephaly Sequence (ILS) and Double-Cortex Syndrome (DC) are neuronal heterotopias caused by developmental defects in neuronal precursor cell migration. We report on the clinical and genetic assessment of a German pedigree with DC/ILS. Affected males showed clinical symptoms typical of lissencephaly, i.e. seizures, severe mental retardation and extensive physical disability starting in the early postnatal period. Females, however, displayed a milder phenotype with epileptic seizures being the only clinical symptom of note. The MR imaging of a male ILS patient showed a smooth cortex with pachy-gyria, hydrocephalus and a diffuse, broad distribution of grey matter throughout the brain. In the affected female, a double cortex syndrome in the form of a subcortical bilateral band of grey matter was evident by MR imaging. The molecular and genetic basis of DC/ILS is associated with mutations in the X-linked doublecortin gene (DCX). The genetic assessment of the family revealed a novel missense mutation 211 G-->T in DCX exon 2 in affected family members. This mutation cosegregated with the clinical symptoms and resulted in a non-conservative amino acid substitution A71S. DCX is a microtubule-associated phosphoprotein and mutations in DCX might affect cytoskeletal dynamics and the regulation of cell migration.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SUBCORTICAL LAMINAR HETEROTOPIA; MICROTUBULE-ASSOCIATED PROTEIN; NEURONAL MIGRATION; SIGNALING PROTEIN; BAND HETEROTOPIA; TYROSINE KINASE; GENE; MOUSE; MALFORMATIONS; PATTERNS; migration; lissencephaly; doublecortin; double cortex; epilepsy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 30 Mar 2022 11:14 |
| Last Modified: | 30 Mar 2022 11:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/42303 |
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