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Difference between revisions of "Ataxia telangiectasia"
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'''Ataxia telangiectasia''', abbreviated AT, is rare autosomal recessive disorder,<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> characterized by cerebellar pathology (ataxia) and abnormal (dilated) blood vessels (telangiectasia). It is grouped with the [[neurocutaneous syndromes]]. | '''Ataxia telangiectasia''', abbreviated AT, is rare autosomal recessive disorder,<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> characterized by cerebellar pathology (ataxia) and abnormal (dilated) blood vessels (telangiectasia). It is grouped with the [[neurocutaneous syndromes]]. Death is typically in the teens.<ref name=Ref_PCPBoD8|679>{{Ref PCPBoD8|679}}</ref> | ||
AT is characterized by:<Ref>URL: [http://www.ncbi.nlm.nih.gov/omim/208900 http://www.ncbi.nlm.nih.gov/omim/208900]. Accessed on: 3 February 2011.</ref> | AT is characterized by:<Ref>URL: [http://www.ncbi.nlm.nih.gov/omim/208900 http://www.ncbi.nlm.nih.gov/omim/208900]. Accessed on: 3 February 2011.</ref> | ||
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*Ataxia. | *Ataxia. | ||
*Telangiectasias - conjunctiva, skin.<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | *Telangiectasias - conjunctiva, skin.<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | ||
==Microsopic== | |||
Features: | |||
*Cerebellum:<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | |||
**Loss of Purkinje cells. | |||
**Loss of granule cells. | |||
*Peripheral nerves: | |||
**Amphicytes - '''key feature'''. | |||
***Schwann cells with "bizarre" nuclear enlargement (2-5X normal). | |||
==References== | ==References== | ||