Judas, M. and Sedmak, G. and Rados, M. and Sarnavka, V. and Fumic, K. and Willer, T. and Gross, C. and Hehr, U. and Strahl, S. and Cuk, M. and Baric, I. (2009) POMT1-Associated Walker-Warburg Syndrome: A Disorder of Dendritic Development of Neocortical Neurons. NEUROPEDIATRICS, 40 (1). pp. 6-14. ISSN 0174-304X, 1439-1899
Full text not available from this repository. (Request a copy)Abstract
We have analyzed the morphology and dendritic development of neocortical neurons in a 2.5-month-old infant with Walker-Warburg syndrome homozygotic for a novel POMT1 gene mutation, by Golgi methods. We found that pyramidal neurons frequently displayed abnormal (oblique, horizontal, or inverted) orientation. A novel finding of this study is that members of the same population of pyramidal neurons display different stages of development of their dendritic arborizations: some neurons had poorly developed dendrites and thus resembled pyramidal neurons of the late fetal cortex: for some neurons, the level of differentiation corresponded to that in the newborn cortex: finally, some neurons had quite elaborate dendritic trees as expected for the cortex of 2.5-month-old infant. In addition, apical dendrites of many pyramidal neurons were conspiciously bent to one side, irrespective to the general orientation of the pyramidal neuron. These findings suggest that Walker-Warburg lissencephaly is characterized by two hitherto unnoticed pathogenetic changes in the cerebral cortex: (a) heterochronic decoupling of dendritic maturation within the same neuronal population (with some members significantly lagging behind the normal maturational schedule) and (b) anisotropically distorted shaping of dendritic trees, probably caused by patchy displacement of molecular guidance cues for dendrites in the malformed cortex.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CONGENITAL MUSCULAR-DYSTROPHY; HUMAN PREFRONTAL CORTEX; CEREBRO-OCULAR DYSPLASIA; EYE-BRAIN DISEASE; PRENATAL DEVELOPMENT; CORTICAL DEVELOPMENT; BIOSYNTHESIS; DYSTROGLYCAN; PHENOTYPE; DELETION; cobblestone lissencephaly; dystroglycanopathy; Golgi analysis; MRI; POMT1 gene mutation |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 07 Oct 2020 07:06 |
| Last Modified: | 07 Oct 2020 07:06 |
| URI: | https://pred.uni-regensburg.de/id/eprint/29547 |
Actions (login required)
 |
View Item |
