Pontine tegmental cap dysplasia
Other Names for this Disease
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The cause of pontine tegmental cap dysplasia PTCD is unknown. To date, all reported cases have been sporadic with no family history of the condition. Researchers have suggested different processes that may lead to PTCD including:
- A problem with the movement of cells in the developing brain (neuronal migration)
- A disorder of ciliary proteins, structures that play a vital role in human development and everyday functioning
- Impaired axonal guidance, part of neural development involving how neurons (nerve cells) send axons (nerve fibers) out to reach correct targets
Last updated: 5/24/2016
- Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011; 6:36. http://www.ncbi.nlm.nih.gov/pubmed/21651769.
- B. Harding, A. Vossough, E. Goldberg, M. Santi. Pontine tegmental cap dysplasia: neuropathological confirmation of a rare clinical/radiological syndrome. Neuropathology and Applied Neurobiology. April 2016; 42(3):301-306. http://www.ncbi.nlm.nih.gov/pubmed/26331236.