Skip to main content
NCBI home page
Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1964 Nov 21;91(21):1106–1118.

Ataxia-Telangiectasia

H G Dunn, H Meuwissen, C S Livingstone, K K Pump
PMCID: PMC1928365  PMID: 14229760

Abstract

Ataxia-telangiectasia is a syndrome of progressive cerebellar ataxia and other neurological manifestations associated with conjunctival and cutaneous telangiectases and with recurrent sino-pulmonary infections. Immunological and endocrine abnormalities occur. Two girls with this disease are described. The first had only minor respiratory infections; her serum proteins and immunity responses appeared normal. The second had recurrent pulmonary infections and bronchiectasis; she also exhibited sclerodermatous changes, poor development of secondary sexual characteristics with low urinary excretion of 17-ketosteroids, and lymphopenia. Autopsy at 17 years showed bilateral ovarian dysgerminomata and excessive cutaneous collagen as well as atrophy, and perhaps hypoplasia, of adrenals, thymus, spleen and lymphoid tissue (after steroid therapy). The cerebellum exhibited cortical degeneration. Both lungs were fibrotic with old and recent bronchopneumonia and bronchiectasis. The left lung was studied by injection of a latex preparation; no arteriovenous aneurysms were found, but the smaller pulmonary vessels showed some unusual morphological characteristics.

Full text

PDF
1106

Images in this article

1107Fig. 1
on p.1107
1108Fig. 2
on p.1108
1109Fig. 3
on p.1109
1110Fig. 5
on p.1110
1111Fig. 6
on p.1111
1111Fig. 7
on p.1111
1112Fig. 8
on p.1112
1112Fig. 9
on p.1112
1112Fig. 10
on p.1112
1113Fig. 11a
on p.1113
1113Fig. 11b
on p.1113

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AUERBACH R. Morphogenetic interactions in the development of the mouse thymus gland. Dev Biol. 1960 Jun;2:271–284. doi: 10.1016/0012-1606(60)90009-9. [DOI] [PubMed] [Google Scholar]
  2. BODER E., SEDGWICK R. P. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. 1958 Apr;21(4):526–554. [PubMed] [Google Scholar]
  3. BOWDEN D. H., DANIS P. G., SOMMERS S. C. ATAXIA-TELANGIECTASIA. A CASE WITH LESIONS OF OVARIES AND ADENOHYPOPHYSIS. J Neuropathol Exp Neurol. 1963 Jul;22:549–554. [PubMed] [Google Scholar]
  4. CENTERWALL W. R., MILLER M. M. Ataxia, telangiectasia, and sinopulmonary infections; a syndrome of slowly progressive deterioration in childhood. AMA J Dis Child. 1958 Apr;95(4):385–396. doi: 10.1001/archpedi.1958.02060050387007. [DOI] [PubMed] [Google Scholar]
  5. DOMINGUEZ C. J., GREENBLATT R. B. Dysgerminoma of the ovary in a patient with Turner's syndrome. Am J Obstet Gynecol. 1962 Mar 1;83:674–677. doi: 10.1016/s0002-9378(16)35898-7. [DOI] [PubMed] [Google Scholar]
  6. FIREMAN P., BOESMAN M., GITLIN D. ATAXIA TELANGIECTASIS. A DYSGAMMAGLOBULINAEMIA WITH DEFICIENT GAMMA-1-A (BETA-2-A)-GLOBULIN. Lancet. 1964 May 30;1(7344):1193–1195. doi: 10.1016/s0140-6736(64)91210-3. [DOI] [PubMed] [Google Scholar]
  7. FRANCOIS J., NEETENS A. [The Louis-Bar "ataxia-telangiectasis" syndrome]. Bull Soc Ophtalmol Fr. 1961 Apr;4:288–292. [PubMed] [Google Scholar]
  8. GRABAR P., WILLIAMS C. A. Méthode permettant l'étude conjuguée des proprietés électrophorétiques et immunochimiques d'un mélange de protéines; application au sérum sanguin. Biochim Biophys Acta. 1953 Jan;10(1):193–194. doi: 10.1016/0006-3002(53)90233-9. [DOI] [PubMed] [Google Scholar]
  9. GUTMANN L., LEMLI L. Ataxia-telangiectasia associated with hypogammaglobulinemia. Arch Neurol. 1963 Mar;8:318–327. doi: 10.1001/archneur.1963.00460030102010. [DOI] [PubMed] [Google Scholar]
  10. HANSEN E. Ataxia-telangiectasia. Six cases. Acta Neurol Scand. 1962;38:188–194. doi: 10.1111/j.1600-0404.1962.tb01091.x. [DOI] [PubMed] [Google Scholar]
  11. KOREIN J., STEINMAN P. A., SENZ E. H. Ataxia-telangiectasia. Report of a case and review of the literature. Arch Neurol. 1961 Mar;4:272–280. doi: 10.1001/archneur.1961.00450090038006. [DOI] [PubMed] [Google Scholar]
  12. MILLER J. F. Immunological function of the thymus. Lancet. 1961 Sep 30;2(7205):748–749. doi: 10.1016/s0140-6736(61)90693-6. [DOI] [PubMed] [Google Scholar]
  13. MOYNAHAN E. J. ATAXIA TELANGIECTASIA. Proc R Soc Med. 1963 Aug;56:727–728. doi: 10.1177/003591576305600825. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. PAINE R. S., EFRON M. L. Atypical variants of the 'ataxia telangiectasia' syndrome. Report of two cases, including one with apparent dominant inheritance. Dev Med Child Neurol. 1963 Feb;5:14–23. [PubMed] [Google Scholar]
  15. PELC S., VIS H. [Familia ataxia with ocular telangiectasis (D. Louis-Bar syndrome)]. Acta Neurol Psychiatr Belg. 1960 Oct;60:905–922. [PubMed] [Google Scholar]
  16. PETERSON R. D., KELLY W. D., GOOD R. A. ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY. Lancet. 1964 May 30;1(7344):1189–1193. doi: 10.1016/s0140-6736(64)91209-7. [DOI] [PubMed] [Google Scholar]
  17. PUMP K. K. The circulation of the primary lobule of the lung. Dis Chest. 1961 Jun;39:614–621. doi: 10.1378/chest.39.6.614. [DOI] [PubMed] [Google Scholar]
  18. SEDGWICK R. P., BODER E. Progressive ataxia in childhood with particular reference to ataxia-telangiectasia. Neurology. 1960 Jul;10:705–715. doi: 10.1212/wnl.10.7.705. [DOI] [PubMed] [Google Scholar]
  19. SMITH J. L., COGAN D. G. Ataxia-telangiectasia. Arch Ophthalmol. 1959 Sep;62:364–369. doi: 10.1001/archopht.1959.04220030020004. [DOI] [PubMed] [Google Scholar]
  20. TELLER W. M., MILLICHAP J. G. Ataxia-telangiectasia (Louis-Bar syndrome) with prominent sinopulmonary disease. JAMA. 1961 Mar 4;175:779–782. doi: 10.1001/jama.1961.03040090039007. [DOI] [PubMed] [Google Scholar]
  21. TETER J. A new concept of classification of gonadal tumours arising from germ cells (gonocytoma) and their histogenesis. Gynaecologia. 1960 Aug;150:84–102. doi: 10.1159/000305729. [DOI] [PubMed] [Google Scholar]
  22. TETER J., TARLOWSKI R. Tumors of the gonads in cases of gonadal dysgenesis and male pseudohermaphroditism. Am J Obstet Gynecol. 1960 Feb;79:321–329. doi: 10.1016/0002-9378(60)90196-4. [DOI] [PubMed] [Google Scholar]
  23. THIEFFRY S., ARTHUIS M., AICARDI J., LYON G. [Ataxiatelangiectasis. (7 personal cases)]. Rev Neurol (Paris) 1961 Nov;105:390–405. [PubMed] [Google Scholar]
  24. WELLS C. E., SHY G. M. Progressive familial choreoathetosis with cutaneous telangiectasia. J Neurol Neurosurg Psychiatry. 1957 May;20(2):98–104. doi: 10.1136/jnnp.20.2.98. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. WILLIAMS H. E., DEMIS D. J., HIGDON R. S. A taxia-telangiectasia. A syndrome with characteristic cutaneous manifestations. Arch Dermatol. 1960 Dec;82:937–942. doi: 10.1001/archderm.1960.01580060091013. [DOI] [PubMed] [Google Scholar]

Articles from Canadian Medical Association Journal are provided here courtesy of Canadian Medical Association

RESOURCES