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Pachygyria: a Neurological Migration Disorder
Corresponding Author(s) : Rajesh Kumar. D
International Journal of Allied Medical Sciences and Clinical Research,
Vol. 1 No. 1 (2013): 2013 Volume 1- Issue -1
Abstract
Pachygyria is a neuronal migration disorder characterized by thick convolutions on cerebral cortex and brain has few gyri. It leads to mental retardation. It is also known as Macrogyria. It is considered as a rare disease. The disease involves mutations in a number of genes. Mainly the symptoms are seizures and delayed development.MRI and CT scan are used for diagnosis. It can be treated by antiepileptic medication and various therapies like speech therapy and occupational therapy. G therapy is effective for the treatment. Sofar, there is no specific dug treatment.
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References
2. Gao Y., Thomas J. O., Chow R. L., Lee G. H., Cowan N. J. A cytoplasmic chaperonin that catalyzes beta-actin folding. Cell. 1992;69:1043–1050.[PubMed]
3. Gdalyahu A., Ghosh I., Levy T., Sapir T., Sapoznik S., Fishler Y., Azoulai D., Reiner O. DCX, a new mediator of the JNK pathway. EMBO J.2004;23:823–832. [PMC free article] [PubMed]
4. Gleeson J. G., et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998; 92:63–72. [PubMed]
5. Grishchuk E. L., McIntosh J. R. Sto1p, a fission yeast protein similar to tubulin folding cofactor E, plays an essential role in mitotic microtubule assembly. J. Cell Sci. 1999;112:1979–1988. [PubMed]
6. Poirier, Gray, and Escourolle. Manual of Basic Neuropathology 1990. pp 200.
7. Cotran, Kumar, and Robbins. Pathologic Basis of Disease 5th edition. pp 1302.
8. Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology. 1992;182 (2): 493-Radiology (abstract) - Pubmed citation
9. Abdel razek AA, Kandell AY, Elsorogy LG et-al. Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol. 2009;30 (1): 4-11. doi:10.3174/ajnr.A1223 -Pubmed citation
10. Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging, 4th ed. 2001.
11. rarediseases.info.nih.gov.
12. www.diseaseinfosearch.org.
13. en.wikipedia.org.