Advertisement

Clinical Variants of Ataxia-Telangiectasia

  • O. Sanal
  • A. I. Berkel
  • F. Ersoy
  • I. Tezcan
  • H. Topaloglu
Part of the NATO ASI Series book series (volume 77)

Abstract

Although ataxia-telangiectasia (A-T) can be diagnosed on purely clinical grounds and often on inspection, a number of case reports have shown clinical variability that makes diagnosis difficult without laboratory assistance such as determination of serum alpha-fetoprotein (AFP), demonstration of chromosomal aberrations or cellular radiosensitivity studies (Curry et al., 1989; Fiorilli et al., 1985; Sedgwick and Boder, 1991; Stankler and Bennet, 1988; Taylor et al., 1987; Terenty et al., 1978; Tsukahara et al., 1986; Ying and Decoteau, 1981). While some of the variants are characterized by a complete phenotype with additional features, others lack early onset of ataxia, telangiectasia or normal intelligence. Patients without clinical features of A-T but with the characteristic cellular radiosensitivity or chromosomal instability have also been reported (Conley et al., 1986; Weemaes et al., 1981; Wegner et al., 1988).

Keywords

Cerebellar Atrophy Nijmegen Breakage Syndrome Progressive Ataxia Cellular Radiosensitivity Mild Ataxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Conley ME, Spinner NB, Emanuel BS, Nowell PC, Nichols WW (1986) A chromosomal breakage syndrome with profound immunodeficiency. Blood 67:1251–1256.PubMedGoogle Scholar
  2. Curry CJR, Tsai J, Hutchinson HT, Jaspers NGJ, Wara D, Gatti RA (1989) AT Fresno: A phenotype linking ataxia-telangiectasia with the Niimegen Breakage Syndrome. Am J Hum Genet 45:270–275.PubMedGoogle Scholar
  3. Fiorilli M, Antonelli A, Russo G, Crescenzi M, Carbonary M, Petrinelli P (1985) Variant of ataxia-telangiectasia with low level radiosensitivity. Hum Genet 70:274–277.PubMedCrossRefGoogle Scholar
  4. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O’Connell P, Paterson M, Salser W, Sanal O, Silver J, Sparkes R, Susi E, Weeks DE, Wei S, White R, Yoder F (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature (London) 336:577–580.CrossRefGoogle Scholar
  5. Sedgwick RP, Boder E (1991) Ataxia-telangiectasia. In Handbook of Clinical Neurology, Chap. 26: Hereditary Neuropathies and Spinocebellar Atrophies (de Jong JMBV ed), Elsevier Science Publishers B.V., Amsterdam pp 347–423.Google Scholar
  6. Stankler L, Bennett FM (1988) Ataxia telangiectasia. Case report of a benign variant with telangiectasia, recurrent infection and low IgA. Brit J Dermatol 88:187–189.CrossRefGoogle Scholar
  7. Taylor AMR, Flude E, Laher B, Stacey M, McKay E, Waat J, Green SH, Harding AE (1987) Variant forms of ataxia telangiectasia. J Med Genet 24:669–677.PubMedCrossRefGoogle Scholar
  8. Terenty TA, Robson P, Walton JH (1978) Presumed ataxia-telangiectasia in a man. Brit J Med ii,802.Google Scholar
  9. Tsukahara M, Masuda M, Ohshiro K, Kobayashi K, Kajii T, Ejima YJ, Sasaki SS (1986) Ataxia telangiectasia with generalized skin pigmentation and early death. Eur J Pediatr 145:121–124.PubMedCrossRefGoogle Scholar
  10. Weemaes CMR, Hustinx TWJ, Scheres JMJC, van Munster PJJ, Bakkeren JAJM, Taalman RDFM (1981) A new chromosomal instability disorder: The Nijmegen breakage syndrome. Acta Pediatr Scand 70:557–564.CrossRefGoogle Scholar
  11. Wegner RD, Metzger M, Hanefeld F, Jaspers NGJ, Baan C, Magdorf K, Kunze J, Sperling K (1988) A new chromosomal instability disorder confirmed by complementation studies. Clin Genet 33:20–32.PubMedCrossRefGoogle Scholar
  12. Ying, KL, Decoteau, WE (1981) Cytogenetic anomalies in a patient with ataxia, immune deficiency and high alphafetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4:311–317.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1993

Authors and Affiliations

  • O. Sanal
    • 1
  • A. I. Berkel
    • 1
  • F. Ersoy
    • 1
  • I. Tezcan
    • 1
  • H. Topaloglu
    • 2
  1. 1.Division of Pediatric ImmunologyHacettepe University Medical SchoolAnkaraTurkey
  2. 2.Division of Pediatric NeurologyHacettepe University Medical SchoolAnkaraTurkey

Personalised recommendations