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RELATION OF HEREDITARY OPTIC ATROPHY (LEBER) TO OTHER FAMILIAL DEGENERATIVE DISEASES OF CENTRAL NERVOUS SYSTEM

RELATION OF HEREDITARY OPTIC ATROPHY (LEBER) TO OTHER FAMILIAL DEGENERATIVE DISEASES OF CENTRAL... Abstract THIS REVIEW was undertaken to determine the nature of the relationship of Leber's hereditary optic atrophy to the other heredodegenerative diseases of the nervous system. It is well known that hereditary optic atrophy has often occurred in conjunction with Marie's hereditary cerebellar ataxia of varying degrees of severity. It is little known that Leber's atrophy may occur with the familial ataxia of Friedreich and with the hereditary spastic paraplegia of Strümpell, the Charcot-Marie-Tooth peroneal muscular atrophy, and the hypertrophic neuritis of Dejerine and Sotta. Other syndromes have recently been added to this impressive group. A brief diagrammatic sketch of the neurological lesions and nomenclature involved will serve as a review of these confusing syndromes. They are usually discussed as separate nervous diseases, named after some neurologist and unrelated except by the fact that they all are hereditary. The present method of presentation was first used in a paper by Aring References 1. Aring, C. D., and Cobb, S.: Muscular Atrophies and Allied Disorders , Medicine 14:77, 1935.Crossref 2. Kawakami, R.: Beiträge zur Vererbung der familiären Sehnervenatrophie , von Graefes Arch. Ophth. 116:568, 1926.Crossref 3. Bell, J.: Hereditary Optic Atrophy (Leber's Disease) , in The Treasury of Human Inheritance , London, Cambridge University Press, 1931, Vol. 2, Pt. 4. 4. Fisher, J. H.: Leber's Disease (Hereditary Optic Atrophy): A Suggestion as to Its Cause , Tr. Ophth. Soc. U. Kingdom 36:298, 1916. 5. Hormuth, P.: Beiträge zur Lehre von den hereditären Sehnervenleiden , Hamburg, L. Voss, 1900, Vol. 5, p. 63. 6. Bird, A. V., and McEachern, D.: Leber's Hereditary Optic Atrophy in Canadian Family , Canad. M. A. J. 61:376, 1949. 7. Ferguson, F. R., and Critchley, M.: Leber's Optic Atrophy and Its Relationship with Heredo-Familial Ataxias , J. Neurol. & Psychopath. 9:120, 1928. 8. Merritt, H. H.: Hereditary Optic Atrophy (Leber's Disease) , Arch. Neurol. & Psychiat. 24:775, 1930. 9. Rehsteiner, K.: Die erste anatomische Untersuchung eines Falles von geschlectsgebundenhereditärer Sehnervenatrophie (Leberscher Krankheit) , von Graefes Arch. Ophth. 125:14, 1930. 10. Androp, S.: Leber's Primary Optic Atrophy with Other Central Nervous System Involvement , Psychiatric Quart. 15:215, 1941. 11. van Leeuwen, A., and van Bogaert, L.: Sur l'atrophie optique hérédo-familiale compliquée (Behr), forme de passage de l'atrophie de Leber aux hérédo-ataxies , Monatsschr. Psychiat. u. Neurol. 105:314, 1942. 12. Leber, T.: Úber hereditäre und congenital-angelagte Sehnervenleiden , von Graefes Arch. Ophth. 17:249, 1871. 13. Duke-Elder, W. S.: Diseases of the Inner Eye , in Text-Book on Ophthalmology , Vol. 3, St. Louis, C. V. Mosby Company, 1940, pp. 2097-3470. 14. Nettleship, E.: Bowman Lecture: On Some Hereditary Diseases of the Eye , Tr. Ophth. Soc. U. Kingdom 39:57, 1909. 15. Pines, I. L. J., and Tron, G.: Hereditäre Neuritis optica (Lebersche Sehnervenatrophie) , Ztschr. ges. Neurol. u. Psychiat. 95:762, 1925. 16. Taylor, J., and Holmes, G.: Two Families with Several Members in Each Suffering from Optic Atrophy , Tr. Ophth. Soc. U. Kingdom 33:95, 1912-1913. 17. Ford, F.: Diseases of the Nervous System in Infancy, Childhood and Adolescence , Springfield, Charles C Thomas, Publisher, 1937. 18. Mollaret, P.: La maladie de Friedreich: Étude physico-clinique , Paris, A. Lahure, 1929. 19. Guillain, G., and Mollaret, P.: Considérations cliniques et physiologiques sur la maladie de Friedreich: L'hérédodegénération spino-cérébelleuse , Presse méd. 41:1417, 1933. 20. Austregesilo, A.: Parentesco entre las atrophies musculares Charcot-Marie, Déjérine-Sottas e a doenca de Friedreich , Clin. neurol. 2:56, 1932. 21. Immamura, S., and Ichikawa, K.: Atrophie optique familiale avec tremblement et déchéance intellectuelle , Rev. neurol. 26:277, 1919. 22. Collier, J.: Two Members of a Family in Which Visual Defects and Loss of Knee-Jerks Have Occurred During Three Generations , Proc. Roy. Soc. Med. , Vol. 6, Neurol. Sec., p. 64, 1912-1913. 23. Behr, C.: Die komplizierte, hereditärfamiliäre Optikusatrophie des Kindesalters , Monatsbl. Augenh. 7:138, 1909. 24. Takashima, S.: Sechs Fälle der komplizierten hereditär-familiären Optikusatrophie des Kindesalter (Behr) , Klin. Monatsbl. Augenh. 16:714, 1913. 25. Franceschetti, A.: Le syndrome de Behr, ses rapports avec la maladie de Leber et les hérédoataxies , Ophthalmologica 107:17, 1944. 26. van Leeuwen, A.; Babel, J.; van Bogaert, L.; Franceschetti, A.; Klein, D., and Montandon: Des atteintes optiques, rétiniennes, et cochléaires dans les dégénerescences spino-pontocérébelleuse , Rev. oto-neuro-opht. 20:1, 1948. 27. Nonne, M.: Über eine eigenthümliche familiäre Erkrankungsform des Centralnerven-systems , Arch. Psychiat. 22:283, 1891.Crossref 28. Nonne, M.: Ein weiterer anatomischer Befund bei einem Fall von familiärer Kleinhirnataxia , Arch. Psychiat. 39:1225, 1905.Crossref 29. van Leeuwen, A. M., and van Bogaert, L.: Hereditary Ataxia with Optic Atrophy of the Retrobulbar Neuritis Type, and Latent Pallido-Luysian Degeneration , Brain 72:340, 1949.Crossref 30. Jendrássik, E.: Über Paralysis spastica; und über die vererbten Nervenkrankheiten in allgemeinen , Deutsches Arch. klin. Med. 58:137, 1897. 31. Schneider, D., and Abeles, M.: Charcot-Marie-Tooth Disease with Primary Optic Atrophy: Report of Two Cases Occurring in Brothers , J. Nerv. & Ment. Dis. 85:651, 1937. 32. Milhorat, A. T.: Studies in Diseases of Muscle: Progressive Muscular Atrophy of Peroneal Type Associated with Atrophy of the Optic Nerves: Report on a Family , Arch. Neurol. & Psychiat. 50:279, 1943. 33. Stewart, P.: Familial Amaurotic Ataxic Paraplegia , Rev. Neurol. & Psychiat. 10:357, 1912. 34. Nyssen, R., and van Bogaert, L.: La dégénérescence systématisée optico-cochléo-dentelée: (étude anatomoclinique d'un type familial) , Rev. neurol. 2:321, 1934. 35. Hammerschlag, V.: Die Heredopathia acustica und ihr Erbung, zugleich eine Erläuterung einfacherer Mendelistischer Vorgänge , Wien. med. Wchnschr. 83:1284 36. 83:1319; 1933 37. 84:93 38. 84:119 39. 84:288 40. 84:319 41. 84:345, 1934. 42. Clauss, O.: Über hereditäre cerebellare Ataxia in Verbindung mit Pigmentdegeneration der Retina (Retinitis pigmentosa) und Degeneration des N. cochlearis , Ztschr. ges. Neurol. u. Psychiat. 93:294, 1924. 43. Vitello, A.: II Pisani , Gior. di patol. nerv. et ment. 59:129, 1939. 44. (a) Franceschetti, A., and Klein, D.: Weiterer Beitrag zur Frage der genetischen Beziehungen zwischen der Friedreichschen Ataxie und den verschiedenen Formen der tapetoretinalen Degenerationen , Bull. schweiz. Akad. med. Wissensch. 2:321, 1947. 45. Piton, J., and Tiffeneau, R.: Maladie familiale du type de l'hérédoataxia , Rev. neurol. 72:774, 1940. 46. Brown, S.: On Hereditary Ataxia with Series of 21 Cases , Brain 15:250, 1892. 47. Lelong, M.; Bertrand, I., and Lereboullet, J.: L'affection dégénérative proche de l'hérédoataxie cérébelleuse avec atteinte du neurone moteur périphérique , Rev. neurol. 73:360, 1941. 48. Mollaret, P., and Cachin, M.: La forme radiculocordonale postérieure de la maladie de Friedreich. Ses analogies avec la maladie de Roussy-Lévy , Rev. neurol. 2:583, 1934. 49. Kapuściński, W.: Über familiäre Aderhautentartung mit ataktischen Störungen , Ber. ü. d. Versamml. deutsch. ophth. Gesellsch. 50:13, 1934. 50. Stählin, S.: Gibt es eine erbliche Sehnervenatrophie ausser der Leberschen Atrophie? Arch. Augenh. 104:222, 1931. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Archives of Ophthalmology American Medical Association

RELATION OF HEREDITARY OPTIC ATROPHY (LEBER) TO OTHER FAMILIAL DEGENERATIVE DISEASES OF CENTRAL NERVOUS SYSTEM

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Publisher
American Medical Association
Copyright
Copyright © 1952 American Medical Association. All Rights Reserved.
ISSN
0096-6339
DOI
10.1001/archopht.1952.00920010681001
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Abstract

Abstract THIS REVIEW was undertaken to determine the nature of the relationship of Leber's hereditary optic atrophy to the other heredodegenerative diseases of the nervous system. It is well known that hereditary optic atrophy has often occurred in conjunction with Marie's hereditary cerebellar ataxia of varying degrees of severity. It is little known that Leber's atrophy may occur with the familial ataxia of Friedreich and with the hereditary spastic paraplegia of Strümpell, the Charcot-Marie-Tooth peroneal muscular atrophy, and the hypertrophic neuritis of Dejerine and Sotta. Other syndromes have recently been added to this impressive group. A brief diagrammatic sketch of the neurological lesions and nomenclature involved will serve as a review of these confusing syndromes. They are usually discussed as separate nervous diseases, named after some neurologist and unrelated except by the fact that they all are hereditary. The present method of presentation was first used in a paper by Aring References 1. Aring, C. D., and Cobb, S.: Muscular Atrophies and Allied Disorders , Medicine 14:77, 1935.Crossref 2. Kawakami, R.: Beiträge zur Vererbung der familiären Sehnervenatrophie , von Graefes Arch. Ophth. 116:568, 1926.Crossref 3. Bell, J.: Hereditary Optic Atrophy (Leber's Disease) , in The Treasury of Human Inheritance , London, Cambridge University Press, 1931, Vol. 2, Pt. 4. 4. Fisher, J. H.: Leber's Disease (Hereditary Optic Atrophy): A Suggestion as to Its Cause , Tr. Ophth. Soc. U. Kingdom 36:298, 1916. 5. Hormuth, P.: Beiträge zur Lehre von den hereditären Sehnervenleiden , Hamburg, L. Voss, 1900, Vol. 5, p. 63. 6. Bird, A. V., and McEachern, D.: Leber's Hereditary Optic Atrophy in Canadian Family , Canad. M. A. J. 61:376, 1949. 7. Ferguson, F. R., and Critchley, M.: Leber's Optic Atrophy and Its Relationship with Heredo-Familial Ataxias , J. Neurol. & Psychopath. 9:120, 1928. 8. Merritt, H. H.: Hereditary Optic Atrophy (Leber's Disease) , Arch. Neurol. & Psychiat. 24:775, 1930. 9. Rehsteiner, K.: Die erste anatomische Untersuchung eines Falles von geschlectsgebundenhereditärer Sehnervenatrophie (Leberscher Krankheit) , von Graefes Arch. Ophth. 125:14, 1930. 10. Androp, S.: Leber's Primary Optic Atrophy with Other Central Nervous System Involvement , Psychiatric Quart. 15:215, 1941. 11. van Leeuwen, A., and van Bogaert, L.: Sur l'atrophie optique hérédo-familiale compliquée (Behr), forme de passage de l'atrophie de Leber aux hérédo-ataxies , Monatsschr. Psychiat. u. Neurol. 105:314, 1942. 12. Leber, T.: Úber hereditäre und congenital-angelagte Sehnervenleiden , von Graefes Arch. Ophth. 17:249, 1871. 13. Duke-Elder, W. S.: Diseases of the Inner Eye , in Text-Book on Ophthalmology , Vol. 3, St. Louis, C. V. Mosby Company, 1940, pp. 2097-3470. 14. Nettleship, E.: Bowman Lecture: On Some Hereditary Diseases of the Eye , Tr. Ophth. Soc. U. Kingdom 39:57, 1909. 15. Pines, I. L. J., and Tron, G.: Hereditäre Neuritis optica (Lebersche Sehnervenatrophie) , Ztschr. ges. Neurol. u. Psychiat. 95:762, 1925. 16. Taylor, J., and Holmes, G.: Two Families with Several Members in Each Suffering from Optic Atrophy , Tr. Ophth. Soc. U. Kingdom 33:95, 1912-1913. 17. Ford, F.: Diseases of the Nervous System in Infancy, Childhood and Adolescence , Springfield, Charles C Thomas, Publisher, 1937. 18. Mollaret, P.: La maladie de Friedreich: Étude physico-clinique , Paris, A. Lahure, 1929. 19. Guillain, G., and Mollaret, P.: Considérations cliniques et physiologiques sur la maladie de Friedreich: L'hérédodegénération spino-cérébelleuse , Presse méd. 41:1417, 1933. 20. Austregesilo, A.: Parentesco entre las atrophies musculares Charcot-Marie, Déjérine-Sottas e a doenca de Friedreich , Clin. neurol. 2:56, 1932. 21. Immamura, S., and Ichikawa, K.: Atrophie optique familiale avec tremblement et déchéance intellectuelle , Rev. neurol. 26:277, 1919. 22. Collier, J.: Two Members of a Family in Which Visual Defects and Loss of Knee-Jerks Have Occurred During Three Generations , Proc. Roy. Soc. Med. , Vol. 6, Neurol. Sec., p. 64, 1912-1913. 23. Behr, C.: Die komplizierte, hereditärfamiliäre Optikusatrophie des Kindesalters , Monatsbl. Augenh. 7:138, 1909. 24. Takashima, S.: Sechs Fälle der komplizierten hereditär-familiären Optikusatrophie des Kindesalter (Behr) , Klin. Monatsbl. Augenh. 16:714, 1913. 25. Franceschetti, A.: Le syndrome de Behr, ses rapports avec la maladie de Leber et les hérédoataxies , Ophthalmologica 107:17, 1944. 26. van Leeuwen, A.; Babel, J.; van Bogaert, L.; Franceschetti, A.; Klein, D., and Montandon: Des atteintes optiques, rétiniennes, et cochléaires dans les dégénerescences spino-pontocérébelleuse , Rev. oto-neuro-opht. 20:1, 1948. 27. Nonne, M.: Über eine eigenthümliche familiäre Erkrankungsform des Centralnerven-systems , Arch. Psychiat. 22:283, 1891.Crossref 28. Nonne, M.: Ein weiterer anatomischer Befund bei einem Fall von familiärer Kleinhirnataxia , Arch. Psychiat. 39:1225, 1905.Crossref 29. van Leeuwen, A. M., and van Bogaert, L.: Hereditary Ataxia with Optic Atrophy of the Retrobulbar Neuritis Type, and Latent Pallido-Luysian Degeneration , Brain 72:340, 1949.Crossref 30. Jendrássik, E.: Über Paralysis spastica; und über die vererbten Nervenkrankheiten in allgemeinen , Deutsches Arch. klin. Med. 58:137, 1897. 31. Schneider, D., and Abeles, M.: Charcot-Marie-Tooth Disease with Primary Optic Atrophy: Report of Two Cases Occurring in Brothers , J. Nerv. & Ment. Dis. 85:651, 1937. 32. Milhorat, A. T.: Studies in Diseases of Muscle: Progressive Muscular Atrophy of Peroneal Type Associated with Atrophy of the Optic Nerves: Report on a Family , Arch. Neurol. & Psychiat. 50:279, 1943. 33. Stewart, P.: Familial Amaurotic Ataxic Paraplegia , Rev. Neurol. & Psychiat. 10:357, 1912. 34. Nyssen, R., and van Bogaert, L.: La dégénérescence systématisée optico-cochléo-dentelée: (étude anatomoclinique d'un type familial) , Rev. neurol. 2:321, 1934. 35. Hammerschlag, V.: Die Heredopathia acustica und ihr Erbung, zugleich eine Erläuterung einfacherer Mendelistischer Vorgänge , Wien. med. Wchnschr. 83:1284 36. 83:1319; 1933 37. 84:93 38. 84:119 39. 84:288 40. 84:319 41. 84:345, 1934. 42. Clauss, O.: Über hereditäre cerebellare Ataxia in Verbindung mit Pigmentdegeneration der Retina (Retinitis pigmentosa) und Degeneration des N. cochlearis , Ztschr. ges. Neurol. u. Psychiat. 93:294, 1924. 43. Vitello, A.: II Pisani , Gior. di patol. nerv. et ment. 59:129, 1939. 44. (a) Franceschetti, A., and Klein, D.: Weiterer Beitrag zur Frage der genetischen Beziehungen zwischen der Friedreichschen Ataxie und den verschiedenen Formen der tapetoretinalen Degenerationen , Bull. schweiz. Akad. med. Wissensch. 2:321, 1947. 45. Piton, J., and Tiffeneau, R.: Maladie familiale du type de l'hérédoataxia , Rev. neurol. 72:774, 1940. 46. Brown, S.: On Hereditary Ataxia with Series of 21 Cases , Brain 15:250, 1892. 47. Lelong, M.; Bertrand, I., and Lereboullet, J.: L'affection dégénérative proche de l'hérédoataxie cérébelleuse avec atteinte du neurone moteur périphérique , Rev. neurol. 73:360, 1941. 48. Mollaret, P., and Cachin, M.: La forme radiculocordonale postérieure de la maladie de Friedreich. Ses analogies avec la maladie de Roussy-Lévy , Rev. neurol. 2:583, 1934. 49. Kapuściński, W.: Über familiäre Aderhautentartung mit ataktischen Störungen , Ber. ü. d. Versamml. deutsch. ophth. Gesellsch. 50:13, 1934. 50. Stählin, S.: Gibt es eine erbliche Sehnervenatrophie ausser der Leberschen Atrophie? Arch. Augenh. 104:222, 1931.

Journal

A.M.A. Archives of OphthalmologyAmerican Medical Association

Published: Dec 1, 1952

References

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