Ataxias Espinocerebelares
DOI:
https://doi.org/10.34024/rnc.1997.v5.10274Palavras-chave:
ataxias hereditárias, ataxia espinocerebelar, locus genéticoResumo
O autor apresenla uma revisão sobre as ataxias hereditárias autossómicas dominanles, agora definidas como ataxias espinocerebelares, enÍalizando os diÍerentes lipos, dentro de uma classiÍicação clínico-genética
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Referências
1. Barbeau, A.; Roy, M.; Cunha, L. et al. The natural history oí Machado-Joseph disease: analysis of 138 personally examined cases. Can J Neurol Sci, 11:510, 1984.
2. Bressman. S.B. Genetics of Ìúovement disorders: recent advânces. ln: Movement disoíders. American Academy of Neurology, 48th Annual Meeeling, São FÍancisco, 1996.
3. Cassa. E. Ataxia cerebelar autossômica dominante no Brasil: Análise de 270 anos de história e genealogia, incluindo a caracterizaçáo de uma grande ÍamÍlia com doença de Machado-Joseph. Tese de Doutorado, Ribeirão Preto, SP 1996.
4. Coutinho, P; Andrade, C. Autosomal dominant system degeneration in Portuguese famìlies of the Azores lslands: a new genetic disorder involving cerebellar, pyramidal, extrapyamidal and spinal cord motor functions. Neurology, 28: 703, 1978.
5. Coutinho, P Doença de Machado-Joseph. Tentativa de definição. Tese de Doutorado, Porto, Portugal, !992.
6. Coutìnho, P; Silva, C.C.; Alves, C.; Barros,J.; Loureiro, J.L.; Guimarães, J. Variation in clinìcal expression of MJD with progression and age. Workshop Abstracts. 3rd International Workshop on Machado-Joseph Disease, Furnas, São Miguel, Azorês, abril, 1994.
7. Dawson, D. M. Ataxia in families from the Azores. N. Engi.J. Med.,296: 1529, 1977.
8. Fowler, H.L. Machado-Joseph disease: a ten year study. Arch Neurol., 41: 921, 1984.
9. Hammans, S.R. The inherited ataxias and the new genetics. J Neurol Neurosurg Psychiatry, 61: 327-332,1996.
10. Harding, A.E. The Hereditary Ataxias and Related Disorders. London, Churchill Livingstone, 1984.
11. Higgins, J.J.; Nee, L. E.; Vasconcelos, O.; Ide, S.E.; Ladevan, C.; GoldÍarb, L.G-; Polymeropoulos. Mutations in american families with spìnoceíebellar ataxia (SCA) type 3: SCA 3 is allelic to Machado-Joseph disease. Neuíology, 46: 208-213, 1996.
12. Junck, L.; Fink,J.K. Machado-Joseph disease and SCA 3: The genotype meets the phenotypes. Neurology, 46: 4-8, 1996.
13. Lopes-Cendes, I.; Steiner,C.E.; Silveira, l.; Pinto Jr.,W.; Mraciel. J.A.: Roleau. G.A. Clinical and molecular characteristics of a brazilian family with spinocerebellar ataxia type 1. Arq. NeuÍopsiquiatr, 54: 412-418,1996.
14. Lima, L.; Coutinho, P Clinical criteria for diagnosis of Machado-Joseph disease: íeport of a non-azorean family. Neurology, 30: 31, 1980.
15. Nakano, K.K.; Dawson, D. M.; Spence, A. Machado-Joseph: a hereditary ataxia in Portuguese emigrants to Massachusetts. NeuÍology, 22: 49, 1972.
16. Nachmanoff, D.B.; Segal, R.A-; Dawson, D. M.t Brown, R.B.; De Girolami, U. Hereditary ataxia with sensory neuíonopâlhy: Biêmond aìaxia. Neurology, 4a: 273-275, 1997.
17. Otozco Dias, G.; Fleites, N.A.; Sagaz, C-R.; Auburger, G. Autossomal dominanl cerebellar alaxia: Clinical analVsis oí 263 patients Írom a homogeneous population in Holgúin, Cuba. Neurology, 40r 1369, 1990.
18. Radvany, J.;Avila, J.O.;Gabbai, A.A.; Bacheschi, L.A. Doença de Machado-Joseph: as duas primêiras Íamílias relatadas no Brasil. Tema livre do 13e Congresso Brasileiro dê Neurologia. Arq. Neuro-Psiquiat (São Pâulo), 46(S): 152, 1988.
19. Radvany, J.; Camargo, C.H.P; Cosla, Z.l\,,1.; Fonseca, N.C.; Nascimento, E.D. lvlachado"Joseph disease oÍ Azorean ancestry in Brasil i The Cataíina kindred. Arq. Neuro-Psiquìat, (São Paulo) 51: 21, 1993.
20. Romanul, F.C.A.t Fowler, H.L.; Badvany, J.: Feldman, B.G. Feingold, M. Azoíean disease of the nervous syslem. N. Engl. J. Med.. 296 1505.1977
21. Rosemberg, R.N.; Nyhan, W L.; Bay, C.; Shore, P Autossomal dominant skiatonigral degeneration: a clinìcal, pathologic and biochemical study of a new genetic disorder. Neurology, 26: 703, 1976.
22. Schols, L. Amoiridis, G.; Epplen, J.T.; Langkafel, M.; Przuntek, H.; Riess O. Relations between genolype and phenotype in german patients with the Machado-Josêph disease mutation. J Neurol Nêurosurg Psychiatry, 61: 466-470, 1996.
23. Silveira, I.; Lopes-Cendes, I.; Kish, S.; Maciel, P; Gaspar, C.; Coutinho, P; Botez, M.I.;Teive, H.; Arruda, W; Steiner, C.E.; Pinto Jr., Wi Maciel, J.A.; Jain, S.; Sack, G.;Andermann, E.; Sudarsky, L.; Rosemberg, R.; MacLeod, P; Chitayat, D.; Babul, R.; Sequeiros, J.; Roleau, G.A. Frequency of spinocerebellar ataxia type 1, dentalorubropallidoluysian atrophy, and Machado-Joseph disease mutatìons in a large group of spinocerebellar ataxia patients. Neurology, 46: 21 4-218, 1 996.
24. Subramony, S.H. Heredìtary Ataxias. In: Geneìics in Neurology. Ameíican Academy oÍ Neurology, 48th Annual Meeting, São Francisco, 1996.
25. Sudarsky, L.t Corwin, L.; Dawson, D.M. Machado-Joseph disease in New-England: Clinicâl description and distinciion lrom the olivopontocerebellar atrophies.
ovement Disordêrs, 7. 204, 1992.
26. Ieive, H.A.G.;Arruda,WO.;Trevisol-Bittencourt, PC. DoenÇa de lvlachado-Joseph. Descrição de cinco membros de uma Íamília. Arq. Neuro-Psiquiât, (São Paulo) 49: 172, 1991. 27. Telve, H.A.G.; Arruda, WO.;Trevisol-Bittencourt, PC. Ataxiâs cerebelares autossômicas dominantes, incluindo a doenÇa de lvlachado-Joseph, no suldo Brasil: estudo de 44 pacientes. Arq. Neuro-Psiquiat, (São Paulo), P-292, 1991.
28. Wadia, N.H.; Swami, K. A new form of heredojamilial spinocerebellaí degeneration with slow eye movemênts (nine Íamìlies). Brain, 94: 359,1971.
29. Warner, ll;Williams, L.D.; Walker, B.W.H.; Flinter, F.; Fobb, S.A.; Bundey, S.E.; Honavar, M.; Harding, A.E. A clinical and molecular genêìic study of dentatorubropallidoluysian atrophy in four european íamilies. Ann. Neurol., 37:452-459, 1995.
30. Woods, B.T.; Schaumburg, H.H. nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinico-pathological entily. J. Nêurol. Sci., 17. 149, 1972.
2. Bressman. S.B. Genetics of Ìúovement disorders: recent advânces. ln: Movement disoíders. American Academy of Neurology, 48th Annual Meeeling, São FÍancisco, 1996.
3. Cassa. E. Ataxia cerebelar autossômica dominante no Brasil: Análise de 270 anos de história e genealogia, incluindo a caracterizaçáo de uma grande ÍamÍlia com doença de Machado-Joseph. Tese de Doutorado, Ribeirão Preto, SP 1996.
4. Coutinho, P; Andrade, C. Autosomal dominant system degeneration in Portuguese famìlies of the Azores lslands: a new genetic disorder involving cerebellar, pyramidal, extrapyamidal and spinal cord motor functions. Neurology, 28: 703, 1978.
5. Coutinho, P Doença de Machado-Joseph. Tentativa de definição. Tese de Doutorado, Porto, Portugal, !992.
6. Coutìnho, P; Silva, C.C.; Alves, C.; Barros,J.; Loureiro, J.L.; Guimarães, J. Variation in clinìcal expression of MJD with progression and age. Workshop Abstracts. 3rd International Workshop on Machado-Joseph Disease, Furnas, São Miguel, Azorês, abril, 1994.
7. Dawson, D. M. Ataxia in families from the Azores. N. Engi.J. Med.,296: 1529, 1977.
8. Fowler, H.L. Machado-Joseph disease: a ten year study. Arch Neurol., 41: 921, 1984.
9. Hammans, S.R. The inherited ataxias and the new genetics. J Neurol Neurosurg Psychiatry, 61: 327-332,1996.
10. Harding, A.E. The Hereditary Ataxias and Related Disorders. London, Churchill Livingstone, 1984.
11. Higgins, J.J.; Nee, L. E.; Vasconcelos, O.; Ide, S.E.; Ladevan, C.; GoldÍarb, L.G-; Polymeropoulos. Mutations in american families with spìnoceíebellar ataxia (SCA) type 3: SCA 3 is allelic to Machado-Joseph disease. Neuíology, 46: 208-213, 1996.
12. Junck, L.; Fink,J.K. Machado-Joseph disease and SCA 3: The genotype meets the phenotypes. Neurology, 46: 4-8, 1996.
13. Lopes-Cendes, I.; Steiner,C.E.; Silveira, l.; Pinto Jr.,W.; Mraciel. J.A.: Roleau. G.A. Clinical and molecular characteristics of a brazilian family with spinocerebellar ataxia type 1. Arq. NeuÍopsiquiatr, 54: 412-418,1996.
14. Lima, L.; Coutinho, P Clinical criteria for diagnosis of Machado-Joseph disease: íeport of a non-azorean family. Neurology, 30: 31, 1980.
15. Nakano, K.K.; Dawson, D. M.; Spence, A. Machado-Joseph: a hereditary ataxia in Portuguese emigrants to Massachusetts. NeuÍology, 22: 49, 1972.
16. Nachmanoff, D.B.; Segal, R.A-; Dawson, D. M.t Brown, R.B.; De Girolami, U. Hereditary ataxia with sensory neuíonopâlhy: Biêmond aìaxia. Neurology, 4a: 273-275, 1997.
17. Otozco Dias, G.; Fleites, N.A.; Sagaz, C-R.; Auburger, G. Autossomal dominanl cerebellar alaxia: Clinical analVsis oí 263 patients Írom a homogeneous population in Holgúin, Cuba. Neurology, 40r 1369, 1990.
18. Radvany, J.;Avila, J.O.;Gabbai, A.A.; Bacheschi, L.A. Doença de Machado-Joseph: as duas primêiras Íamílias relatadas no Brasil. Tema livre do 13e Congresso Brasileiro dê Neurologia. Arq. Neuro-Psiquiat (São Pâulo), 46(S): 152, 1988.
19. Radvany, J.; Camargo, C.H.P; Cosla, Z.l\,,1.; Fonseca, N.C.; Nascimento, E.D. lvlachado"Joseph disease oÍ Azorean ancestry in Brasil i The Cataíina kindred. Arq. Neuro-Psiquìat, (São Paulo) 51: 21, 1993.
20. Romanul, F.C.A.t Fowler, H.L.; Badvany, J.: Feldman, B.G. Feingold, M. Azoíean disease of the nervous syslem. N. Engl. J. Med.. 296 1505.1977
21. Rosemberg, R.N.; Nyhan, W L.; Bay, C.; Shore, P Autossomal dominant skiatonigral degeneration: a clinìcal, pathologic and biochemical study of a new genetic disorder. Neurology, 26: 703, 1976.
22. Schols, L. Amoiridis, G.; Epplen, J.T.; Langkafel, M.; Przuntek, H.; Riess O. Relations between genolype and phenotype in german patients with the Machado-Josêph disease mutation. J Neurol Nêurosurg Psychiatry, 61: 466-470, 1996.
23. Silveira, I.; Lopes-Cendes, I.; Kish, S.; Maciel, P; Gaspar, C.; Coutinho, P; Botez, M.I.;Teive, H.; Arruda, W; Steiner, C.E.; Pinto Jr., Wi Maciel, J.A.; Jain, S.; Sack, G.;Andermann, E.; Sudarsky, L.; Rosemberg, R.; MacLeod, P; Chitayat, D.; Babul, R.; Sequeiros, J.; Roleau, G.A. Frequency of spinocerebellar ataxia type 1, dentalorubropallidoluysian atrophy, and Machado-Joseph disease mutatìons in a large group of spinocerebellar ataxia patients. Neurology, 46: 21 4-218, 1 996.
24. Subramony, S.H. Heredìtary Ataxias. In: Geneìics in Neurology. Ameíican Academy oÍ Neurology, 48th Annual Meeting, São Francisco, 1996.
25. Sudarsky, L.t Corwin, L.; Dawson, D.M. Machado-Joseph disease in New-England: Clinicâl description and distinciion lrom the olivopontocerebellar atrophies.
ovement Disordêrs, 7. 204, 1992.
26. Ieive, H.A.G.;Arruda,WO.;Trevisol-Bittencourt, PC. DoenÇa de lvlachado-Joseph. Descrição de cinco membros de uma Íamília. Arq. Neuro-Psiquiât, (São Paulo) 49: 172, 1991. 27. Telve, H.A.G.; Arruda, WO.;Trevisol-Bittencourt, PC. Ataxiâs cerebelares autossômicas dominantes, incluindo a doenÇa de lvlachado-Joseph, no suldo Brasil: estudo de 44 pacientes. Arq. Neuro-Psiquiat, (São Paulo), P-292, 1991.
28. Wadia, N.H.; Swami, K. A new form of heredojamilial spinocerebellaí degeneration with slow eye movemênts (nine Íamìlies). Brain, 94: 359,1971.
29. Warner, ll;Williams, L.D.; Walker, B.W.H.; Flinter, F.; Fobb, S.A.; Bundey, S.E.; Honavar, M.; Harding, A.E. A clinical and molecular genêìic study of dentatorubropallidoluysian atrophy in four european íamilies. Ann. Neurol., 37:452-459, 1995.
30. Woods, B.T.; Schaumburg, H.H. nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinico-pathological entily. J. Nêurol. Sci., 17. 149, 1972.
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1997-06-30
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Teive, H. A. G. (1997). Ataxias Espinocerebelares. Revista Neurociências, 5(2), 7–15. https://doi.org/10.34024/rnc.1997.v5.10274
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Recebido: 2020-02-14
Publicado: 1997-06-30
Publicado: 1997-06-30
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