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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pontine tegmental cap dysplasia


Other Names for this Disease
  • PTCD
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Cause

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What causes pontine tegmental cap dysplasia?

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
More research is needed for the scientific community to form a consensus on the underlying cause or causes of PTCD.[1][2]
Last updated: 5/24/2016

References
  1. 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.
  2. 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.


Other Names for this Disease
  • PTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.