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Ataxia-Telangiectasia: Report of Seven Cases

Ataxia-Telangiectasia: Report of Seven Cases Abstract Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus, ocular motor apraxic movements, strabismus, frequent loss of optokinetic responses, and poor convergence ability. The principle pathological changes were in the central nervous system, respiratory system, thymus, lymphatics and gonads. Four cases showed an absence or deficient gamma 1A globulin (1A). There were 2 sets of siblings in this series. Since a deficiency in 1A increases the susceptibility to infection, bronchitis and pneumonia constitute a serious threat for these patients. Lymphoreticular malignancies are also a common cause of death. References 1. Louis-Bar, D.: Sur un syndrome progressif comprenant des telangiectasies capillaires cutanees et conjunctivales symetriques a disposition navoide et des troubles cerebelleux , Confin Neurol 4:32-42, 1941.Crossref 2. Boder, E., and Sedgewick, R.P.: Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia, and Frequent Pulmonary Infections , Pediatrics 21:525-554, 1958. 3. Boder, E., and Sedgewick, R.P.: Ataxia-Telangiectasia , Univ S Calif Med Bull 9:15-28, 1957. 4. Centerwall, W.R., and Miller, M.M.: Ataxia-Telangiectasia and Sinopulmonary Infections , Amer J Dis Child 95:385-396, 1958.Crossref 5. Wells, C.E., and Shy, G.M.: Progressive Familial Chorioathetosis With Cutaneous Telangiectasia , J Neurol Neurosurg and Psychiat 20:98-104, 1957.Crossref 6. Pickup, J.D., and Pugh, R.J.: Familial Ataxia-Telangiectasia , Arch Dis Child 36:344-346, 1961.Crossref 7. Greenfield, J.G.: The Spino-cerebellar Degenerations , Oxford, England: Blackwell Scientific Publications, 1954, pp 112. 8. Macdonald, W.B.; Fitch, K.D.; and Lewis, I.C.: Cockayne's Disease: Heredo-Familial Disorder of Growth and Development , Pediatrics 25:997-1007, 1960. 9. Korein, J.; Steinman, P.; and Senz, E.: Ataxia-Telangiectasia , Arch Neurol 4:272-280, 1961.Crossref 10. Michael, J.C., and Levin, P.M.: Multiple Telangiectasia of the Brain: A Discussion of Hereditary Factors in Their Development , Arch Neurol Psychiat 36:514-523, 1936.Crossref 11. Hodgson, C.H., et al: Hereditary Hemorrhagic Telangiectasia and Pulmonary Arterio Venous Fistula , New Eng J Med 261:625-635, 1959.Crossref 12. Snyder, H.L.: Fifty Years of Medical Genetics , Science 129:7, 1959.Crossref 13. Peterson, R.D.A.; Kelly, W.D.; and Good, R.A.: Ataxia-Telangiectasia: Its Association With a Defective Thymus, Immunological Deficiency Disease, and Malignancy , Lancet 1:1189-1193, 1964.Crossref 14. Reye, C.: Ataxia-Telangiectasia , Amer J Dis Child 99:238-241, 1960.Crossref 15. Boder, E., and Sedgewick, R.P.: Ataxia-Telangiectasia: A Review of 150 Cases, read before the International Copenhagen Congress on the Study of Mental Retardation, Copenhagen, 1964. 16. Karpati, G., et al: Ataxia-Telangiectasia , Amer J Dis Child 110:51-63, 1965.Crossref 17. Biemond, A.: Paleocerebellar Atrophy With Extra Pyramidal Manifestations in Association With Bronchiectasis and Congenital Telangiectasia as a Familial Syndrome, read before the First International Congress of Neurological Sciences, Brussels, July 1957. 18. McKusick, V.A., and Cross, H.E.: Ataxia-Telangiectasia and Swiss Type Agammaglobulinemia , JAMA 195:739-745, 1966.Crossref 19. Reed, W.B., et al: Cutaneous Manifestations of Ataxia-Telangiectasia , JAMA 195:746-753, 1966.Crossref 20. Smith, J.L., and Cogan, D.G.: Ataxia-Telangiectasia , Arch Ophthal 62:364-369, 1959.Crossref 21. Ramsey, R.B.: Ataxia-Telangiectasia (Louis-Bar Syndrome) , Trans Canad Ophthal Soc 24:31-34, 1961. 22. Cogan, D.G.: A Type of Congenital Ocular Motor Apraxia Presenting Jerky Head Movements , Trans Amer Acad Ophthal Otolargng 56:853-861, 1952. 23. Gutman, L., and Lemli, L.: Ataxia-Telangiectasia Associated With Hypogammaglobulinemia , Arch Neurol 8:318-327, 1963.Crossref 24. Fireman, P.; Boesman, M.; and Gitlin, D.: Ataxia-Telangiectasia: A Dysgammaglobulinemia With Deficient Gamma 1A (B2A) Globulin , Lancet 1:1193-1195, 1964.Crossref 25. Eisen, A.H.: Delayed Hypersensitivity in Ataxia-Telangiectasia , New Eng J Med 272:801, 1965.Crossref 26. Young, R.R.; Austin, K.F.; and Moser, H.: Abnormalities of Serum Gamma 1A Globulin and Ataxia-Telangiectasia , Medicine 43:423-433, 1964.Crossref 27. Rockey, J.H., et al: A Beta 2 A Globulinemia in 2 Healthy Males , J Lab Clin Med 63:205, 1964. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Ataxia-Telangiectasia: Report of Seven Cases

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Publisher
American Medical Association
Copyright
Copyright © 1967 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1967.00980020584004
Publisher site
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Abstract

Abstract Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus, ocular motor apraxic movements, strabismus, frequent loss of optokinetic responses, and poor convergence ability. The principle pathological changes were in the central nervous system, respiratory system, thymus, lymphatics and gonads. Four cases showed an absence or deficient gamma 1A globulin (1A). There were 2 sets of siblings in this series. Since a deficiency in 1A increases the susceptibility to infection, bronchitis and pneumonia constitute a serious threat for these patients. Lymphoreticular malignancies are also a common cause of death. References 1. Louis-Bar, D.: Sur un syndrome progressif comprenant des telangiectasies capillaires cutanees et conjunctivales symetriques a disposition navoide et des troubles cerebelleux , Confin Neurol 4:32-42, 1941.Crossref 2. Boder, E., and Sedgewick, R.P.: Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia, and Frequent Pulmonary Infections , Pediatrics 21:525-554, 1958. 3. Boder, E., and Sedgewick, R.P.: Ataxia-Telangiectasia , Univ S Calif Med Bull 9:15-28, 1957. 4. Centerwall, W.R., and Miller, M.M.: Ataxia-Telangiectasia and Sinopulmonary Infections , Amer J Dis Child 95:385-396, 1958.Crossref 5. Wells, C.E., and Shy, G.M.: Progressive Familial Chorioathetosis With Cutaneous Telangiectasia , J Neurol Neurosurg and Psychiat 20:98-104, 1957.Crossref 6. Pickup, J.D., and Pugh, R.J.: Familial Ataxia-Telangiectasia , Arch Dis Child 36:344-346, 1961.Crossref 7. Greenfield, J.G.: The Spino-cerebellar Degenerations , Oxford, England: Blackwell Scientific Publications, 1954, pp 112. 8. Macdonald, W.B.; Fitch, K.D.; and Lewis, I.C.: Cockayne's Disease: Heredo-Familial Disorder of Growth and Development , Pediatrics 25:997-1007, 1960. 9. Korein, J.; Steinman, P.; and Senz, E.: Ataxia-Telangiectasia , Arch Neurol 4:272-280, 1961.Crossref 10. Michael, J.C., and Levin, P.M.: Multiple Telangiectasia of the Brain: A Discussion of Hereditary Factors in Their Development , Arch Neurol Psychiat 36:514-523, 1936.Crossref 11. Hodgson, C.H., et al: Hereditary Hemorrhagic Telangiectasia and Pulmonary Arterio Venous Fistula , New Eng J Med 261:625-635, 1959.Crossref 12. Snyder, H.L.: Fifty Years of Medical Genetics , Science 129:7, 1959.Crossref 13. Peterson, R.D.A.; Kelly, W.D.; and Good, R.A.: Ataxia-Telangiectasia: Its Association With a Defective Thymus, Immunological Deficiency Disease, and Malignancy , Lancet 1:1189-1193, 1964.Crossref 14. Reye, C.: Ataxia-Telangiectasia , Amer J Dis Child 99:238-241, 1960.Crossref 15. Boder, E., and Sedgewick, R.P.: Ataxia-Telangiectasia: A Review of 150 Cases, read before the International Copenhagen Congress on the Study of Mental Retardation, Copenhagen, 1964. 16. Karpati, G., et al: Ataxia-Telangiectasia , Amer J Dis Child 110:51-63, 1965.Crossref 17. Biemond, A.: Paleocerebellar Atrophy With Extra Pyramidal Manifestations in Association With Bronchiectasis and Congenital Telangiectasia as a Familial Syndrome, read before the First International Congress of Neurological Sciences, Brussels, July 1957. 18. McKusick, V.A., and Cross, H.E.: Ataxia-Telangiectasia and Swiss Type Agammaglobulinemia , JAMA 195:739-745, 1966.Crossref 19. Reed, W.B., et al: Cutaneous Manifestations of Ataxia-Telangiectasia , JAMA 195:746-753, 1966.Crossref 20. Smith, J.L., and Cogan, D.G.: Ataxia-Telangiectasia , Arch Ophthal 62:364-369, 1959.Crossref 21. Ramsey, R.B.: Ataxia-Telangiectasia (Louis-Bar Syndrome) , Trans Canad Ophthal Soc 24:31-34, 1961. 22. Cogan, D.G.: A Type of Congenital Ocular Motor Apraxia Presenting Jerky Head Movements , Trans Amer Acad Ophthal Otolargng 56:853-861, 1952. 23. Gutman, L., and Lemli, L.: Ataxia-Telangiectasia Associated With Hypogammaglobulinemia , Arch Neurol 8:318-327, 1963.Crossref 24. Fireman, P.; Boesman, M.; and Gitlin, D.: Ataxia-Telangiectasia: A Dysgammaglobulinemia With Deficient Gamma 1A (B2A) Globulin , Lancet 1:1193-1195, 1964.Crossref 25. Eisen, A.H.: Delayed Hypersensitivity in Ataxia-Telangiectasia , New Eng J Med 272:801, 1965.Crossref 26. Young, R.R.; Austin, K.F.; and Moser, H.: Abnormalities of Serum Gamma 1A Globulin and Ataxia-Telangiectasia , Medicine 43:423-433, 1964.Crossref 27. Rockey, J.H., et al: A Beta 2 A Globulinemia in 2 Healthy Males , J Lab Clin Med 63:205, 1964.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: May 1, 1967

References