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> | ||
Latest revision as of 04:09, 30 August 2011
Ataxia telangiectasia, abbreviated AT, is rare autosomal recessive disorder,[1] characterized by cerebellar pathology (ataxia) and abnormal (dilated) blood vessels (telangiectasia). It is grouped with the neurocutaneous syndromes. Death is typically in the teens.[2]
AT is characterized by:[3]
- Immunodeficiency.
- High propensity to develop malignancy.
- Ataxia.
- Telangiectasias - conjunctiva, skin.[1]
Microsopic
Features:
- Cerebellum:[1]
- Loss of Purkinje cells.
- Loss of granule cells.
- Peripheral nerves:
- Amphicytes - key feature.
- Schwann cells with "bizarre" nuclear enlargement (2-5X normal).
- Amphicytes - key feature.
References
- ↑ 1.0 1.1 1.2 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1323. ISBN 978-1416031215.
- ↑ Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 679. ISBN 978-1416054542.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/208900. Accessed on: 3 February 2011.