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Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings

Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings Abstract In 1931 Marinesco et al1 reported a family in which five siblings, four boys and a girl, had cerebellar ataxia and oligophrenia with congenital cataracts. In 1947 Sjogren2 reported two patients in two different families, both with consanguineous parents, who had cerebellar ataxia, oligophrenia, and congenital cataracts. Since that time the syndrome of cerebellar ataxia, oligophrenia, and congenital cataracts has become known as the Marinesco-Sjogren syndrome. It is a very rare syndrome apparently inherited as an autosomal recessive trait. Other authors who have written papers on this syndrome are Richards,3 Garland and Moorhouse,4 Decock and Macken,5 Durusken,6 MacGillivray,7 Dogulu and Mutler,8 Dureaux, Cordier, Ziza and Tridon,9 Amyot,10 Franceschetti, Marty, and Klein,11 Muller,12 Alter, Talbert, and Croffead,13,14 and Prot.15 Francois16 states that aniridia with oligophrenia has been reported several times. It is the purpose of this References 1. Marinesco, G.; Draganesco, G.; and Vasiliu, O.: Nouvelle maladie familiale caractéresée par une cataracte congénitale et un arrêt du developpement somato-neuro-psychique , Encéphale 26:97-109, 1931. 2. Sjogren, T.: Hereditary Congenital Spinocerebellar Ataxia Combined With Congenital Cataracts and Oligophrenia, Acta Psychiat Neurol Supp 46, Nils Antoni Anno Aetatis LX. 3. Richards, B. W.: Cataracts, Ataxia and Mental Deficiency: Report of Two Cases , J Ment Sci 96:537, 1950. 4. Garland, H., and Moorhouse, D.: Extremely Rare Recessive Hereditary Syndrome Including Cerebellar Ataxia, Oligophrenia, Cataract, and Other Features , J Neurol Neurosurg Psychiat 16: 110, 1953.Crossref 5. Decock, G., and Macken, J.: Hérédoataxie avec sémiologie et cataracte spéciales , Acta Neurol Psychiat Belg 53:398, 1953. 6. Durusken, O. S.: Heredo-familyal vasif gosteren serebellar sindrom ve katarakts , Bull Soc Turq Med 19:480, 1953. 7. MacGillivray, R. C.: Oligophrenia, Cerebellar Ataxia and Cataracts: Syndrome of Marinesco-Garland , Amer J Ment Def 61:719, 1957. 8. Dogulu, S., and Mutler, N.: Iki kardeste konjenital katarakt spinoserebellar ataksia ve oligofrenia , Deniz Tip Bült 3:1, 1957. 9. Dureux, J. B., et al.: Hérédoataxie, cataracte et oligophrénie (syndrome de Marinesco-Sjögren) , Rev Neurol 98:777, 1958. 10. Amyot, R.: Le syndrome de Marinesco-Sjögren. Revue de la littérature; Trois observations personnelles portant sur trois soeurs , Rev Neurol 103:97, 1960. 11. Franceschetti, A.; Marty, F.; and Klein, D.: Un syndrome rare; hérédoataxie avec cararacte congénitale et retard mental , Confin Neurol 16: 271-275, 1956.Crossref 12. Muller, K.: Das Marinesco-Sjögren-Syndrom: Spinocerebellar Ataxie mit Katarakl and Oligophrenie , Z Kinderheilk 87:348, 1962.Crossref 13. Alter, M.; Talbert, O. R.; and Croffead, G.: Cerebellar Ataxia, Congenital Cataracts and Retarded Somatic and Mental Maturation , Neurology 12:836, 1962.Crossref 14. Alter, M.; Talbert, O. R.; and Croffead, G.: Cerebellar Ataxia, Congenital Cataracts, and Retarded Somatic and Mental Development , Trans Amer Neurol Ass 87:91, 1962. 15. Prot, J., and Zielinska, S. W.: Sprawie Zespolu Marinescu-Sjögrena , Neurol Neurochiv Psychiat Pol 12:479, 1962. 16. Francois, J.: Heredity in Ophthalmology , St. Louis: The C. V. Mosby Co., 1961, p 153. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings

Archives of Ophthalmology , Volume 73 (3) – Mar 1, 1965

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Publisher
American Medical Association
Copyright
Copyright © 1965 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1965.00970030340008
Publisher site
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Abstract

Abstract In 1931 Marinesco et al1 reported a family in which five siblings, four boys and a girl, had cerebellar ataxia and oligophrenia with congenital cataracts. In 1947 Sjogren2 reported two patients in two different families, both with consanguineous parents, who had cerebellar ataxia, oligophrenia, and congenital cataracts. Since that time the syndrome of cerebellar ataxia, oligophrenia, and congenital cataracts has become known as the Marinesco-Sjogren syndrome. It is a very rare syndrome apparently inherited as an autosomal recessive trait. Other authors who have written papers on this syndrome are Richards,3 Garland and Moorhouse,4 Decock and Macken,5 Durusken,6 MacGillivray,7 Dogulu and Mutler,8 Dureaux, Cordier, Ziza and Tridon,9 Amyot,10 Franceschetti, Marty, and Klein,11 Muller,12 Alter, Talbert, and Croffead,13,14 and Prot.15 Francois16 states that aniridia with oligophrenia has been reported several times. It is the purpose of this References 1. Marinesco, G.; Draganesco, G.; and Vasiliu, O.: Nouvelle maladie familiale caractéresée par une cataracte congénitale et un arrêt du developpement somato-neuro-psychique , Encéphale 26:97-109, 1931. 2. Sjogren, T.: Hereditary Congenital Spinocerebellar Ataxia Combined With Congenital Cataracts and Oligophrenia, Acta Psychiat Neurol Supp 46, Nils Antoni Anno Aetatis LX. 3. Richards, B. W.: Cataracts, Ataxia and Mental Deficiency: Report of Two Cases , J Ment Sci 96:537, 1950. 4. Garland, H., and Moorhouse, D.: Extremely Rare Recessive Hereditary Syndrome Including Cerebellar Ataxia, Oligophrenia, Cataract, and Other Features , J Neurol Neurosurg Psychiat 16: 110, 1953.Crossref 5. Decock, G., and Macken, J.: Hérédoataxie avec sémiologie et cataracte spéciales , Acta Neurol Psychiat Belg 53:398, 1953. 6. Durusken, O. S.: Heredo-familyal vasif gosteren serebellar sindrom ve katarakts , Bull Soc Turq Med 19:480, 1953. 7. MacGillivray, R. C.: Oligophrenia, Cerebellar Ataxia and Cataracts: Syndrome of Marinesco-Garland , Amer J Ment Def 61:719, 1957. 8. Dogulu, S., and Mutler, N.: Iki kardeste konjenital katarakt spinoserebellar ataksia ve oligofrenia , Deniz Tip Bült 3:1, 1957. 9. Dureux, J. B., et al.: Hérédoataxie, cataracte et oligophrénie (syndrome de Marinesco-Sjögren) , Rev Neurol 98:777, 1958. 10. Amyot, R.: Le syndrome de Marinesco-Sjögren. Revue de la littérature; Trois observations personnelles portant sur trois soeurs , Rev Neurol 103:97, 1960. 11. Franceschetti, A.; Marty, F.; and Klein, D.: Un syndrome rare; hérédoataxie avec cararacte congénitale et retard mental , Confin Neurol 16: 271-275, 1956.Crossref 12. Muller, K.: Das Marinesco-Sjögren-Syndrom: Spinocerebellar Ataxie mit Katarakl and Oligophrenie , Z Kinderheilk 87:348, 1962.Crossref 13. Alter, M.; Talbert, O. R.; and Croffead, G.: Cerebellar Ataxia, Congenital Cataracts and Retarded Somatic and Mental Maturation , Neurology 12:836, 1962.Crossref 14. Alter, M.; Talbert, O. R.; and Croffead, G.: Cerebellar Ataxia, Congenital Cataracts, and Retarded Somatic and Mental Development , Trans Amer Neurol Ass 87:91, 1962. 15. Prot, J., and Zielinska, S. W.: Sprawie Zespolu Marinescu-Sjögrena , Neurol Neurochiv Psychiat Pol 12:479, 1962. 16. Francois, J.: Heredity in Ophthalmology , St. Louis: The C. V. Mosby Co., 1961, p 153.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Mar 1, 1965

References

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