Arruda, Walter Oleschko

doi:10.1590/S0004-282X1991000100009

Resumos

As ataxias cerebelares hereditárias constituem um dos grupos nosológicos da Neurologia Clínica de mais difícil compreensão e sistematização. Para melhor compreensão do assunto, o autor apresenta a trajetória histórica das diversas tentativas em classificar-se este complexo grupo de doenças neurogenéticas. As classificações baseadas em dados clínicos e genéticos são as mais úteis, mas o passo definitivo) para a elucidação da patogênese e identificação das formas distintas de heredoataxias começa a ser dado pelos estudos de genética molecular.

The hereditary cerebellar ataxias are one of the most complex group of neurogenetic diseases. A review of the several attempts do classify the heredoataxias is presented. The classifications based on clinical and genetic grounds are the most useful. The recent advances in molecular genetics are prone to give important clues for elucidation and understanding of the pathogenesis of heredodegenerative cerebellar diseases.

CONTEÚDO CONTENTS

Walter Oleschko Arruda

Neurologista, Unidade de Ciências Neurológicas, Curitiba.

RESUMO

As ataxias cerebelares hereditárias constituem um dos grupos nosológicos da Neurologia Clínica de mais difícil compreensão e sistematização. Para melhor compreensão do assunto, o autor apresenta a trajetória histórica das diversas tentativas em classificar-se este complexo grupo de doenças neurogenéticas. As classificações baseadas em dados clínicos e genéticos são as mais úteis, mas o passo definitivo) para a elucidação da patogênese e identificação das formas distintas de heredoataxias começa a ser dado pelos estudos de genética molecular.

SUMMARY

The hereditary cerebellar ataxias are one of the most complex group of neurogenetic diseases. A review of the several attempts do classify the heredoataxias is presented. The classifications based on clinical and genetic grounds are the most useful. The recent advances in molecular genetics are prone to give important clues for elucidation and understanding of the pathogenesis of heredodegenerative cerebellar diseases.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Agradecimentos - A Profª Maria Luiza Petzl-Erler, Departamento de Genética da UFPR, Prof. Luiz F. Bleggi Torres, Dra. Moema de Araújo Cardoso, Dr. Ricardo Ranieri Seixas e Dr. Hélio A. Ghizoni Teive.

Dr. Walter O. Arruda - Rua Gonçalves Dias 713 - 80240 Curitiba PR - Brasil.

1. Arruda WO. Ataxia cerebelar hereditária autossômica dominante. Dissertação de Mestrado, Universidade Federal do Paraná Curitiba, 1989.
2. Arruda WO, Carvalho C Neto. Late onset autosomal dominant cerebellar ataxia: report of two familial cases. Neurobiologia (aceito para publicação).
3. Barbeau A, Sadibelouiz M, Sadibelouiz A, Roy M. A clinical classification of hereditary ataxias. Can J Neurol Sci 1984, 11:501.
4. Berciano J. Olivopontocerebellar atrophy: a review of 117 cases. J Neurol Sci 1982. 53:253.
5. Boller F, Segarra JM. Spinopontine degeneration. Eur Neurol 1969, 2:356.
6. Bundey S. Genetics and Neurology. Edinburgh: Churchill-Livingstone, 1985, p 223-40.
7. Currier RD, Glover G, Jackson JF, Tipton AF. Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. Neurology 1972, 22:1040.
8. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connell P, Paterson, M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Weir D, White R. Yoder F. Localization of an ataxia-telangiectasia gene to chromsome 1122-23. Nature 1989, 336:577.
9. Gray RC, Oliver CP. Marie's hereditary cerebellar ataxia (olivopontocerebelar atrophy). Minn Med 1941,24:327.
10. Greenfield JG. The Spino-Cerebellar Degenerations. Oxford : Blackwell, 1954, p 109.
11. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the «Drew family of Walworth». Brain 1982, 105:1.
12. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983, 1:1151.
13. Harding AE. The Hereditary Ataxias and Related Disorders. London: Churchill-Livingstone, 1984.
14. Harding AE. Commentary: olivopontocerebellar atrophy is not a useful concept. In Mars-den CD, Fahn S (eds) : Movement Disorders 2. London. Butterworths, 1987, p 269-71.
15. Holmes G. An attempt to classify cerebellar disease with a note on Marie's hereditary cerebellar ataxia. Brain 1907, 30:545.
16. Kondo K, Hirota K, Katagiri T. Genetic and clinical patterns of heritable cerebellar ataxias in adults: II. Clinical manifestations. J Med Genetics 1981, 18:276.
17. Kondo K, Sobue I. Genetic and clinical patterns of heritable cerebellar ataxias in adults: I. Genetic analyses. J Med Genetics 1980, 17:416.
18. Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: a review. Medicine 1970, 49:227.
19. Marie P. Sur l'héredoataxie cérébelleuse. Sem Med (Paris) 1893, 13:444.
20. Nakano KK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972, 22:49.
21. Oppenheimer DR. Diseases of the basal ganglia, cerebellum and motor neurons. In: Adams JK, Corsellis JAN, Duchen LW (eds) : Greenfield's Neuropathology. Ed 4. London: Edward Arnold, 1984, p 699-747.
22. Payne CS, Roses AE. The molecular genetic revolution: its impact on clinical neurology. Arch Neurol 1989, 45:1366.
213. Pogacar S, Ambler M, Conklin WJ, O'Neil WA, Lee HY. Dominant spinopontine atrophy: report of two additional members of family W. Arch Neurol 1978, 35:156.
24. Pogacar S, Finelli PF. Dominant spinopontine atrophy. Arch Neurol 1983, 40:259.
25. Pratt RTC. The Genetics of Neurological Disorders. Oxford Univ Press, 1967, p 31-48.
26. Rosenberg RN, Grossman A. Hereditary; ataxia. Neurol Clin 1989, 7:25.
27. Rosenberg RN, Nyhan WWL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. Neurology 1976, 26:706.
28. Schut JW. Hereditary ataxia: clinical study through six generations. Arch Neurol Psy-chiat 1950, 63:535.
29. Sequeiros J, Suite NDA. Spinopontine atrophy disputed as a separate entity: the first description of Machado-Joseph disease. Neurology 1986. 36:1408.
30. Taniguchi R, Konigsmark BW. Dominant spino-pontine atrophy: report of a family throuhg three generations, Brain 1971, 94:349.
31. Whittington JE, Keats BJB, Jackson JF, Currier RD, Terasaki PI. Linkage studies on glyoxalase - I (GLO), pepsinogen (PG), spinocerebellar ataxia (SCA I), and HLA. Cytogenet Cell Genet 1980, 28:145.
32. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinico-pathological entity. J Neurol Sci 1972, 17:149.
33. Zoghbi HY, Pollack MS, Lyons RA, Ferrell RE, Daiger SP, Beaudet AL. Spinocerebellar ataxia: variable age of onset and linkage to HLA in a large kindred. Ann Neurol 1988, 23:580.
34. Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCAI) centromeric to the HLA region on the short arm of chromossome 6, using multilocus linkage analysis. Am J Hum Genet 1989, 44:255.

Classificação das ataxias cerebelares hereditárias

Classification of the hereditary cerebellar ataxias

Datas de Publicação

Publicação nesta coleção
22 Fev 2011
Data do Fascículo
Mar 1991

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Arruda WO. Ataxia cerebelar hereditária autossômica dominante. Dissertação de Mestrado, Universidade Federal do Paraná Curitiba, 1989.

[2] 2. Arruda WO, Carvalho C Neto. Late onset autosomal dominant cerebellar ataxia: report of two familial cases. Neurobiologia (aceito para publicação).

[3] 3. Barbeau A, Sadibelouiz M, Sadibelouiz A, Roy M. A clinical classification of hereditary ataxias. Can J Neurol Sci 1984, 11:501.

[4] 4. Berciano J. Olivopontocerebellar atrophy: a review of 117 cases. J Neurol Sci 1982. 53:253.

[5] 5. Boller F, Segarra JM. Spinopontine degeneration. Eur Neurol 1969, 2:356.

[6] 6. Bundey S. Genetics and Neurology. Edinburgh: Churchill-Livingstone, 1985, p 223-40.

[7] 7. Currier RD, Glover G, Jackson JF, Tipton AF. Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. Neurology 1972, 22:1040.

[8] 8. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connell P, Paterson, M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Weir D, White R. Yoder F. Localization of an ataxia-telangiectasia gene to chromsome 1122-23. Nature 1989, 336:577.

[9] 9. Gray RC, Oliver CP. Marie's hereditary cerebellar ataxia (olivopontocerebelar atrophy). Minn Med 1941,24:327.

[10] 10. Greenfield JG. The Spino-Cerebellar Degenerations. Oxford : Blackwell, 1954, p 109.

[11] 11. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the «Drew family of Walworth». Brain 1982, 105:1.

[12] 12. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983, 1:1151.

[13] 13. Harding AE. The Hereditary Ataxias and Related Disorders. London: Churchill-Livingstone, 1984.

[14] 14. Harding AE. Commentary: olivopontocerebellar atrophy is not a useful concept. In Mars-den CD, Fahn S (eds) : Movement Disorders 2. London. Butterworths, 1987, p 269-71.

[15] 15. Holmes G. An attempt to classify cerebellar disease with a note on Marie's hereditary cerebellar ataxia. Brain 1907, 30:545.

[16] 16. Kondo K, Hirota K, Katagiri T. Genetic and clinical patterns of heritable cerebellar ataxias in adults: II. Clinical manifestations. J Med Genetics 1981, 18:276.

[17] 17. Kondo K, Sobue I. Genetic and clinical patterns of heritable cerebellar ataxias in adults: I. Genetic analyses. J Med Genetics 1980, 17:416.

[18] 18. Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: a review. Medicine 1970, 49:227.

[19] 19. Marie P. Sur l'héredoataxie cérébelleuse. Sem Med (Paris) 1893, 13:444.

[20] 20. Nakano KK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972, 22:49.

[21] 21. Oppenheimer DR. Diseases of the basal ganglia, cerebellum and motor neurons. In: Adams JK, Corsellis JAN, Duchen LW (eds) : Greenfield's Neuropathology. Ed 4. London: Edward Arnold, 1984, p 699-747.

[22] 22. Payne CS, Roses AE. The molecular genetic revolution: its impact on clinical neurology. Arch Neurol 1989, 45:1366.

[23] 213. Pogacar S, Ambler M, Conklin WJ, O'Neil WA, Lee HY. Dominant spinopontine atrophy: report of two additional members of family W. Arch Neurol 1978, 35:156.

[24] 24. Pogacar S, Finelli PF. Dominant spinopontine atrophy. Arch Neurol 1983, 40:259.

[25] 25. Pratt RTC. The Genetics of Neurological Disorders. Oxford Univ Press, 1967, p 31-48.

[26] 26. Rosenberg RN, Grossman A. Hereditary; ataxia. Neurol Clin 1989, 7:25.

[27] 27. Rosenberg RN, Nyhan WWL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. Neurology 1976, 26:706.

[28] 28. Schut JW. Hereditary ataxia: clinical study through six generations. Arch Neurol Psy-chiat 1950, 63:535.

[29] 29. Sequeiros J, Suite NDA. Spinopontine atrophy disputed as a separate entity: the first description of Machado-Joseph disease. Neurology 1986. 36:1408.

[30] 30. Taniguchi R, Konigsmark BW. Dominant spino-pontine atrophy: report of a family throuhg three generations, Brain 1971, 94:349.

[31] 31. Whittington JE, Keats BJB, Jackson JF, Currier RD, Terasaki PI. Linkage studies on glyoxalase - I (GLO), pepsinogen (PG), spinocerebellar ataxia (SCA I), and HLA. Cytogenet Cell Genet 1980, 28:145.

[32] 32. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinico-pathological entity. J Neurol Sci 1972, 17:149.

[33] 33. Zoghbi HY, Pollack MS, Lyons RA, Ferrell RE, Daiger SP, Beaudet AL. Spinocerebellar ataxia: variable age of onset and linkage to HLA in a large kindred. Ann Neurol 1988, 23:580.

[34] 34. Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCAI) centromeric to the HLA region on the short arm of chromossome 6, using multilocus linkage analysis. Am J Hum Genet 1989, 44:255.