Doença de Machado-Joseph descrição de cinco membros de uma família

Teive, Hélio A. Ghizoni; Arruda, Walter O.; Trevisol-Bittencourt, Paulo C.

doi:10.1590/S0004-282X1991000200010

Resumos

Os autores apresentam o estudo realizado em 5 membros afetados de uma família portadora da doença de Machado-Joseph. São abordados os diferentes tipos clínicos da doença encontrados, bem como os exames complementares realizados, em particular os estudos de tomografia craniana, exames neurofisiológicos (eletromiografia, estudo de condução nervosa, estudo de potencial evocado auditivo), biópsias de nervo periférico e de músculo estriado esquelético, com estudo histoquímico.

The authors report the clinical and laboratorial findings of 5 affected members (all males) of a family with Machado-Joseph disease. The mode a inheritance was autosomal dominant. The mean onset age was 38 years (range 30-50 years). The clinical picture was pleomorphic and included cerebellar ataxia, external ophthalmoplegia with bulging eyes, extrapiramidal/piramidal syndromes, amyotrophy with fasciculations and peripheral neuropathy, in variable degrees of severity. In one patient parkinsonian rigidity was greatly improved with the use of trihexaphenidyl and L-dopa. CT scan examinations disclosed a variable degree of cerebellar atrophy, with mild cerebral atrophy in one patient. Brainsten evoked potentials were normal in two patients. EMG showed denervation in three patients. Muscle biopsy (gastrocnemium) with histochemical studies revealed chronic muscle denervation in four cases. Sural nerve biopsy with conventional pathological study was normal in four cases. This family was living in Florianopolis, Santa Catarina, where there is a great number of Portuguese descendants from the Azores Islands. The worldwide presence of the disease seems to result from the genic diffusion of the disease with the Portuguese emigration during the Great Navigations Era and with some later emigratory settlement.

CONTENTS CONTEÚDO

Doença de Machado-Joseph descrição de cinco membros de uma família

Machado-Joseph disease: report on five members of a family.

Hélio A. Ghizoni Teive^I; Walter O. Arruda^I; Paulo C. Trevisol-Bittencourt^II

^IUnidade de Ciências Neurológicas, Curitiba

^IIHospital Universitário, UFSC, Florianópolis.

RESUMO

Os autores apresentam o estudo realizado em 5 membros afetados de uma família portadora da doença de Machado-Joseph. São abordados os diferentes tipos clínicos da doença encontrados, bem como os exames complementares realizados, em particular os estudos de tomografia craniana, exames neurofisiológicos (eletromiografia, estudo de condução nervosa, estudo de potencial evocado auditivo), biópsias de nervo periférico e de músculo estriado esquelético, com estudo histoquímico.

SUMMARY

The authors report the clinical and laboratorial findings of 5 affected members (all males) of a family with Machado-Joseph disease. The mode a inheritance was autosomal dominant. The mean onset age was 38 years (range 30-50 years). The clinical picture was pleomorphic and included cerebellar ataxia, external ophthalmoplegia with bulging eyes, extrapiramidal/piramidal syndromes, amyotrophy with fasciculations and peripheral neuropathy, in variable degrees of severity. In one patient parkinsonian rigidity was greatly improved with the use of trihexaphenidyl and L-dopa. CT scan examinations disclosed a variable degree of cerebellar atrophy, with mild cerebral atrophy in one patient. Brainsten evoked potentials were normal in two patients. EMG showed denervation in three patients. Muscle biopsy (gastrocnemium) with histochemical studies revealed chronic muscle denervation in four cases. Sural nerve biopsy with conventional pathological study was normal in four cases. This family was living in Florianopolis, Santa Catarina, where there is a great number of Portuguese descendants from the Azores Islands. The worldwide presence of the disease seems to result from the genic diffusion of the disease with the Portuguese emigration during the Great Navigations Era and with some later emigratory settlement.

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Agradecimentos - Os autores agradecem aos Drs.: L.C. Werneck (Serviço de Doenças Neuromusculares, especialidade de Neurologia, Hospital de Clínicas, UFPR), pela avaliação e laudos das biópsias musculares (Histoquímica); L.F. Bleggi Torres (Departamento de Anatomia Patológica, Hospital de Clínicas, UFPR), pela análise das biópsias de nervos periféricos; G. Minguetti e M.V. Costa Ferreira (Centro de Tomografia Computadorizada - CETAC), pela realização dos estudos tomográficos de crânio; R.R. Seixas (Centro Diagnostico Curitiba), pela realização dos estudos eletromiográficos, de condução nervosa e de potenciais evocados.

Dr. Hélio A. O. Teive - Praça Santos Andrade 37, Bloco B, Apto. 13 - 80020 Curitiba PR -Brasil

1. Arruda WO. Ataxia cerebelar hereditária autossômica dominante. Dissertação de Mestrado, Universidade Federal do Paraná Curitiba, 1989.
2. Arruda WO. Classificação das ataxias cerebelares hereditárias. Arq Neuro-Psiquiat 1991, 49.
3. Barbeau A, Roy M, Cunha L, de Vicente! AN, Rosemberg RN, Nyhan WL, Macleod PL, Chazot G, Langston LB, Dawson DM, Coutinho P. The natural history of Machado-Joseph disease: analysis of 138 personally examined cases. Can J Neurol Sci 1984, 11 : 510.
4. Bharucha NE, Bharucha EP, Bhabha SK. Machado-Joseph-Azorean disease in India. Arch Neurol 1986, 43:142.
5. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology 1978, 28:703.
6. Coutinho P, Guimarães A, Scaravilli F. The pathology of Machado-Joseph disease: report of a possible homozygous case. Acta Neuropath (Berlin) 1982, 58:48.
7. Dawson DM. Ataxia in families from the Azores. N Engl J Med 1977, 296:1529.
8. Dawson DM, Feudo P, Zubick HH, Rosemberg R, Fowler H. Electro-oculographic findings in Machado-Joseph disease. Neurology 1982, 32:1282.
9. Duvoisin RC. The olivopontocerebellar atrophies. In Marsden CD, Fahn S (eds) : Movement Disorders, 2 London: Butterworths, 1987, p 249.
10. Fowler HL. Machado-Joseph-Azorean disease: a ten year study. Arch Neurol 1984, 41:921.
11. Fowler HL, Magalhães J, Rogers FM. Azorean disease of the nervous system (letter). N Engl J Med 1977, 297:729.
12. Gibb WRG. The neropathology of Parkinsonian disorders. In Jankovic J, Tolosoa E (eds) : Parkinson's disease and movement disorders. Baltimore: Urban & Schwarzenberg 1988, p 205.
13. Grossman A, Rosemberg RN, Warmoth L. Glutamate and malate dehydrogenase activities in Joseph disease and olivopontocerebellar atrophy. Neurology 1987, 37:106.
14. Harding AE. The Hereditary Ataxias and Related Disorders. London: Churchill Livingstone, 1984.
15. Healton EB, Brust JCM, Kerr DL, Resor S, Penn A. Familial cerebellar ataxia, dystonia and abnormal eye movements in a non-portuguese family. Neurology 1979, 29:559.
16. Healton EB, Brust JCM, Kerr DL, Resor S, Penn A. Presumably azorean disease in a presumably non-portuguese family. Neurology 1980, 30:1084.
17. Hotson JR, Langston EB, Louis AA, Rosemberg RN. The search, for a physiologic marker of Machado-Joseph disease. Neurology 1987, 37:112.
18. Landis DMD, Rosemberg RN, Landis SC, Schut L, Nyhan WL Olivopontocerebellar degeneration: clinical and ultrastructural abnormalities. Arch Neurol 1974, 31:25.
19. Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-azorean family. Neurology 1980, 30:31.
20. Mello KA, Abbott BP. Effect of sulfamethoxazole and trimethoprim on neurologic dysfunction in a patient with Joseph's disease. Arch Neurol 1988, 45:210.
21. Morrison MR, Rosemberg RN. Epecific messenger RNA changes in Joseph disease cerebella. An Neurol 1983, 14:73.
22. Nakano KK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972, 22:49.
23. Piazza WF, Hubener LM. Santa Catarina: História da Gente. Ed 2. Florianópolis: Lunardelli, 1987.
24. Pogacar S, Finelli PF. Dominant spinopontine atrophy. Arch Neurol 1983, 40:25.
25. Pou-Serradell A, Russi A, Ferrer I, Galofré E, Escudero D. Maladie de Machado-Joseph dans une familie d'origine espagnole. Rev Neurol (Paris) 1987, 143:520.
26. Radvany J, Avila JO, Gabbai AA, Bacheschi LA. Doença de Machado-Joseph : as duas primeiras familias relatadas no Brasil. Tema livre: o 13ş Congresso Brasileiro de Neurologia. Arq Neuro-Psiquiat (São Paulo) 1988, 46(S):152.
27. Romanul FCA, Fowler HL, Radvany J, Feldman RG, Feingold M. Azorean disease of the nervous system. N Engl J Med 1977, 296:1505.
28. Romanul FCA, Radvany J, Fowler HL, Tarsy D. Azorean disease of the nervous system; report of six additional families. Trans Am Neurol Assoc 1978, 269.
29. Romanul FCA. Azorean disease of the nervous system. N Engl J Med 1977, 297:72.
30. Rosemberg RN. Azorean disease of the nervous system. N Engl J Med 1977, 297:729.
31. Rosemberg RN, Fowler HL. Autossomal dominant motor system disease of the Portuguese : a review. Neurology 1981, 31:1124.
32. Rosemberg RN, Grossman A. Hereditary ataxias. Neurol Clinics 1989, 7:25.
33. Rosemberg RN, Ivy N, Kirkpatrick J, Bay C, Nyhan WL, Baskin F. Joseph disease and Huntington disease: protein patterns in fibroblasts and brain. Neurology 1981, 31:1003.
34. Rosemberg RN, Nyhan WL, Bay C, Shore P. Autossomal dominant striatonigral degeneration: a clinical, pathologic and biochemical study of a new genetic disorder. Neurology 1976, 26:703.
35. Rosemberg RN, Nyhan WL, Coutinho P, Bay C. Joseph's disease : an autossomal dominant neurological disease in the Portuguese of the United States and the Azores islands. Adv Neurol 1978, 21:33.
36. Rosemberg RN, Thomas L, Baskin F, Kirkpatrick J, Bay C, Nyhan WL. Joseph disease: protein patterns in fibroblast and brain. Neurology 1979, 29:917.
37. Sachdev HS, Forno LS, Kane CA. Joseph disease: la multisystem degenerative disorder of the nervous system. Neurology 1982, 32:192.
38. Sachdev HS, Forno LS, Kane CA. Portuguese autossomal dominant hereditary ataxia of unknown cause. Ann Neurol 1980, 8:130.
39. Sakai T, Ohta M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983, 33:74.
40. Sequeiros J, Suite NDA. Spinopontine atrophy as a separate entity: the first description of Machado-Joseph disease. Neurology 1986, 36:1408.
41. Taniguchi R, Konigsmark BW. Dominant spino-pontine atrophy: report of a family through three generations. Brain 1971, 94:349.
42. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique land partially treatable clinico-pathological entity. J Neurol Sci 1972, 17:149.
43. Yuasa T, Ohama E, Harayama H, Yamada M, Kawase Y, Wakabayashi M, Atsumi T, Miyatake T. Joseph's disease : clinical and pathological studies in a Japanese family. Ann Neurol 1986, 19:152.

Datas de Publicação

Publicação nesta coleção
22 Fev 2011
Data do Fascículo
Jun 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. Classificação das ataxias cerebelares hereditárias. Arq Neuro-Psiquiat 1991, 49.

[3] 3. Barbeau A, Roy M, Cunha L, de Vicente! AN, Rosemberg RN, Nyhan WL, Macleod PL, Chazot G, Langston LB, Dawson DM, Coutinho P. The natural history of Machado-Joseph disease: analysis of 138 personally examined cases. Can J Neurol Sci 1984, 11 : 510.

[4] 4. Bharucha NE, Bharucha EP, Bhabha SK. Machado-Joseph-Azorean disease in India. Arch Neurol 1986, 43:142.

[5] 5. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology 1978, 28:703.

[6] 6. Coutinho P, Guimarães A, Scaravilli F. The pathology of Machado-Joseph disease: report of a possible homozygous case. Acta Neuropath (Berlin) 1982, 58:48.

[7] 7. Dawson DM. Ataxia in families from the Azores. N Engl J Med 1977, 296:1529.

[8] 8. Dawson DM, Feudo P, Zubick HH, Rosemberg R, Fowler H. Electro-oculographic findings in Machado-Joseph disease. Neurology 1982, 32:1282.

[9] 9. Duvoisin RC. The olivopontocerebellar atrophies. In Marsden CD, Fahn S (eds) : Movement Disorders, 2 London: Butterworths, 1987, p 249.

[10] 10. Fowler HL. Machado-Joseph-Azorean disease: a ten year study. Arch Neurol 1984, 41:921.

[11] 11. Fowler HL, Magalhães J, Rogers FM. Azorean disease of the nervous system (letter). N Engl J Med 1977, 297:729.

[12] 12. Gibb WRG. The neropathology of Parkinsonian disorders. In Jankovic J, Tolosoa E (eds) : Parkinson's disease and movement disorders. Baltimore: Urban & Schwarzenberg 1988, p 205.

[13] 13. Grossman A, Rosemberg RN, Warmoth L. Glutamate and malate dehydrogenase activities in Joseph disease and olivopontocerebellar atrophy. Neurology 1987, 37:106.

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

[15] 15. Healton EB, Brust JCM, Kerr DL, Resor S, Penn A. Familial cerebellar ataxia, dystonia and abnormal eye movements in a non-portuguese family. Neurology 1979, 29:559.

[16] 16. Healton EB, Brust JCM, Kerr DL, Resor S, Penn A. Presumably azorean disease in a presumably non-portuguese family. Neurology 1980, 30:1084.

[17] 17. Hotson JR, Langston EB, Louis AA, Rosemberg RN. The search, for a physiologic marker of Machado-Joseph disease. Neurology 1987, 37:112.

[18] 18. Landis DMD, Rosemberg RN, Landis SC, Schut L, Nyhan WL Olivopontocerebellar degeneration: clinical and ultrastructural abnormalities. Arch Neurol 1974, 31:25.

[19] 19. Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-azorean family. Neurology 1980, 30:31.

[20] 20. Mello KA, Abbott BP. Effect of sulfamethoxazole and trimethoprim on neurologic dysfunction in a patient with Joseph's disease. Arch Neurol 1988, 45:210.

[21] 21. Morrison MR, Rosemberg RN. Epecific messenger RNA changes in Joseph disease cerebella. An Neurol 1983, 14:73.

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

[23] 23. Piazza WF, Hubener LM. Santa Catarina: História da Gente. Ed 2. Florianópolis: Lunardelli, 1987.

[24] 24. Pogacar S, Finelli PF. Dominant spinopontine atrophy. Arch Neurol 1983, 40:25.

[25] 25. Pou-Serradell A, Russi A, Ferrer I, Galofré E, Escudero D. Maladie de Machado-Joseph dans une familie d'origine espagnole. Rev Neurol (Paris) 1987, 143:520.

[26] 26. Radvany J, Avila JO, Gabbai AA, Bacheschi LA. Doença de Machado-Joseph : as duas primeiras familias relatadas no Brasil. Tema livre: o 13ş Congresso Brasileiro de Neurologia. Arq Neuro-Psiquiat (São Paulo) 1988, 46(S):152.

[27] 27. Romanul FCA, Fowler HL, Radvany J, Feldman RG, Feingold M. Azorean disease of the nervous system. N Engl J Med 1977, 296:1505.

[28] 28. Romanul FCA, Radvany J, Fowler HL, Tarsy D. Azorean disease of the nervous system; report of six additional families. Trans Am Neurol Assoc 1978, 269.

[29] 29. Romanul FCA. Azorean disease of the nervous system. N Engl J Med 1977, 297:72.

[30] 30. Rosemberg RN. Azorean disease of the nervous system. N Engl J Med 1977, 297:729.

[31] 31. Rosemberg RN, Fowler HL. Autossomal dominant motor system disease of the Portuguese : a review. Neurology 1981, 31:1124.

[32] 32. Rosemberg RN, Grossman A. Hereditary ataxias. Neurol Clinics 1989, 7:25.

[33] 33. Rosemberg RN, Ivy N, Kirkpatrick J, Bay C, Nyhan WL, Baskin F. Joseph disease and Huntington disease: protein patterns in fibroblasts and brain. Neurology 1981, 31:1003.

[34] 34. Rosemberg RN, Nyhan WL, Bay C, Shore P. Autossomal dominant striatonigral degeneration: a clinical, pathologic and biochemical study of a new genetic disorder. Neurology 1976, 26:703.

[35] 35. Rosemberg RN, Nyhan WL, Coutinho P, Bay C. Joseph's disease : an autossomal dominant neurological disease in the Portuguese of the United States and the Azores islands. Adv Neurol 1978, 21:33.

[36] 36. Rosemberg RN, Thomas L, Baskin F, Kirkpatrick J, Bay C, Nyhan WL. Joseph disease: protein patterns in fibroblast and brain. Neurology 1979, 29:917.

[37] 37. Sachdev HS, Forno LS, Kane CA. Joseph disease: la multisystem degenerative disorder of the nervous system. Neurology 1982, 32:192.

[38] 38. Sachdev HS, Forno LS, Kane CA. Portuguese autossomal dominant hereditary ataxia of unknown cause. Ann Neurol 1980, 8:130.

[39] 39. Sakai T, Ohta M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983, 33:74.

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

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

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

[43] 43. Yuasa T, Ohama E, Harayama H, Yamada M, Kawase Y, Wakabayashi M, Atsumi T, Miyatake T. Joseph's disease : clinical and pathological studies in a Japanese family. Ann Neurol 1986, 19:152.