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==

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).

References

  1. 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.
  2. 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.
  3. URL: http://www.ncbi.nlm.nih.gov/omim/208900. Accessed on: 3 February 2011.