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Progressive Dystonia Masking Ataxia in Ataxia-Telangiectasia

Progressive Dystonia Masking Ataxia in Ataxia-Telangiectasia Abstract • A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had more classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologicabnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia. References 1. Bigger WD, Good RA: Immunodeficiency in ataxia-telangiectasia . Birth Defects 11:271-273, 1975. 2. Boder E: Ataxia-telangiectasia: Some historic, clinical and pathologic observations . Birth Defects 11:255-270, 1975. 3. Sugimoto T, Sawada T, Tozawa M, et al: Plasma levels of carcinoembryonic antigen in patients with ataxia-telangiectasia . J Pediatr 92:436-439, 1978.Crossref 4. Waldmann TA, McIntire KR: Serum-alphafetoprotein levels in patients with ataxia-telangiectasia . Lancet 2:1112, 1972.Crossref 5. Boder E, Sedgwick RP: Ataxia-telangiectasia: A review of 101 cases , in Walsh G (ed): Little Club Clinics in Developmental Medicine . London, Heinemann Medical Books, 1963, pp 110-118. 6. Syllaba L, Henner K: Contribution a' l'independence de L'athetose double idiopathique et congenitale . Rev Neurol 45:541-562, 1926. 7. Wells CE, Shy GM: Progressive familial choreoathetosis with cutaneous telangiectasia . J Neurol, Neurosurg, Psychiatry 20:98-104, 1957.Crossref 8. Smith JL, Cogan DG: Ataxia-telangiectasia . Arch Ophthalmol 62:364-369, 1959.Crossref 9. Baloh RW, Yee RD, Boder E: Eye movements in ataxia-telangiectasia . Neurology 28:1099-1104, 1978.Crossref 10. Marsden CD, Harrison MJG: Idiopathic torsion dystonia: A review of 42 patients . Brain 97:793-810, 1974.Crossref 11. Solitare GB, Lopez VG: Louis-Bar's syndrome (ataxia-telangiectasia): Neuropathologic observations . Neurology 17:23-31, 1967.Crossref 12. Terplan KL, Krauss RF: Histopathologic brain changes in association with ataxia-telangiectasia . Neurology 19:446-454, 1969.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Progressive Dystonia Masking Ataxia in Ataxia-Telangiectasia

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Publisher
American Medical Association
Copyright
Copyright © 1980 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1980.00500560094020
Publisher site
See Article on Publisher Site

Abstract

Abstract • A 10-year-old boy with ataxia-telangiectasia had severe progressive dystonic posturing that masked the ataxia until treatment relieved the dystonia. A younger sister had more classical neurologic manifestations of the disease. However, both children had telangiectasia, immunologicabnormalities, and other features of ataxia-telangiectasia. The pathologic changes that have been found in the basal ganglia at autopsy and the occurrence of choreoathetosis, oculomotor disturbances, and now dystonia indicate that the function of the basal ganglia in patients with ataxia-telangiectasia is abnormal. Children who have basal ganglial abnormalities should be studied for ataxia-telangiectasia. References 1. Bigger WD, Good RA: Immunodeficiency in ataxia-telangiectasia . Birth Defects 11:271-273, 1975. 2. Boder E: Ataxia-telangiectasia: Some historic, clinical and pathologic observations . Birth Defects 11:255-270, 1975. 3. Sugimoto T, Sawada T, Tozawa M, et al: Plasma levels of carcinoembryonic antigen in patients with ataxia-telangiectasia . J Pediatr 92:436-439, 1978.Crossref 4. Waldmann TA, McIntire KR: Serum-alphafetoprotein levels in patients with ataxia-telangiectasia . Lancet 2:1112, 1972.Crossref 5. Boder E, Sedgwick RP: Ataxia-telangiectasia: A review of 101 cases , in Walsh G (ed): Little Club Clinics in Developmental Medicine . London, Heinemann Medical Books, 1963, pp 110-118. 6. Syllaba L, Henner K: Contribution a' l'independence de L'athetose double idiopathique et congenitale . Rev Neurol 45:541-562, 1926. 7. Wells CE, Shy GM: Progressive familial choreoathetosis with cutaneous telangiectasia . J Neurol, Neurosurg, Psychiatry 20:98-104, 1957.Crossref 8. Smith JL, Cogan DG: Ataxia-telangiectasia . Arch Ophthalmol 62:364-369, 1959.Crossref 9. Baloh RW, Yee RD, Boder E: Eye movements in ataxia-telangiectasia . Neurology 28:1099-1104, 1978.Crossref 10. Marsden CD, Harrison MJG: Idiopathic torsion dystonia: A review of 42 patients . Brain 97:793-810, 1974.Crossref 11. Solitare GB, Lopez VG: Louis-Bar's syndrome (ataxia-telangiectasia): Neuropathologic observations . Neurology 17:23-31, 1967.Crossref 12. Terplan KL, Krauss RF: Histopathologic brain changes in association with ataxia-telangiectasia . Neurology 19:446-454, 1969.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jul 1, 1980

References