Machado-Joseph disease. An update;Doença de Machado-Joseph Atualização

Revista Brasileira de Neurologia

Volumn 34, Issue 3, 1998, Pages 83-91

  Reis, Carlos Eduardo ^a   Boaventura Liberato, Bernardo ^a   Hartmann, Ana Luiza ^a   De Queiroz Campos Araújo, Abelardo ^a  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

Ataxias; Cerebellum; Genetics; Machado Joseph disease

Indexed keywords

EID: 2542537644     PISSN: 01018469     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (59)

1. AZULAY JP, BLIN O, MESTRE D, SANGLA I, SERRATRICE G - Contrast sensitivity improvement with sulfamethoxazole and trimethoprim in a patient with Machado-Joseph disease without spasticity. J Neurol Sci, 123: 95-99, 1994.
2. la. BARBEAU A , ROY M , CUNHA L , DE VINCENTE AN, et al. The natural history of Machado-Joseph disease: an analysis of 138 personally examined cases. Can J Neurol Sci, 11: 510-525, 1984.
3. BROWN S - On hereditary ataxia with a series of twenty-one cases. Brain, 15: 250-282. 1892.
4. BURT T, BLUMBERGS P, CURRIE B-A dominant hereditary ataxia resembling Machado-Joseph disease in Amhem Land, Australia. Neurology, 43: 1750-1752, 1993.
5. CAMPUZANO V, MONTERMINI L, MOLTO M, et al. - Friedreich's ataxia: autossomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271: 1423-1427, 1996.
6. CANCEL G, ABBAS N, STEVANIN G, et al. - Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/MJD locus. Am J Hum Genet, 57: 809-816, 1995.
7. 5a. CORREIA M, COUTINHO P, SILVA MC, GUIMARÀES J, AMADO J, MATTOS E - Evaluation of the effect of sulphametoxazole and trimethoprim in patients with Machado-Joseph disease. Rev Neurol (Paris), 23: 121, 1995.
8. COUTINHO P, ANDRADE C - Autosomal dominant nervous system degeneration in Portuguese families of the Azores Islands. Neurology, 28: 703-709, 1978.
9. COUTINHO P, GUIMARÀES A, SCARAVILLI F - The pathology of Machado-Joseph disease. Report of a possible homozygous case. Acta Neuropathol(Berl), 58: 48-54, 1982.
10. FRASER D - Defect of the cerebellum occurring in a brother and sister. Glasgow Med J, 13: 1999-2101, 1880.
11. FRIEDREICH N - Über degenerative atrophie der spinalen hiterstange. Arch Pathol Anat Berl, 26: 391-492, 1863.
12. FUKUTANI Y, KATSUKAWA K, MATSUBARA R, KOBAYASHI K, NAKAMURA I, YAMAGUSHI N et al. - Dellirium associated with Joseph disease. J Neurol Neurosurg Psychiatry, 56: 1207-1212, 1993.
13. GIUNTI P, SWEENEY MG, HARDING AE-Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autossomal dominant motor disorders, including she Drew family of Walworth. Brain, 118: 1077-1085, 1995.
14. GOLDBERG-STERN H, DJALDETTI R, MELAMED E, GADOTH N - Machado Joseph (Azorean) disease in a Yemenite Jewish family in Israel. Neurology, 44: 1298-1301, 1994.
15. GREENFIELD JG - The Spino-cerebellar Degenerations. Springfield , IL: Charles C. Thomas, 1954.
16. GUO-XIANG W - A Six Year Study of Machado Joseph Disease of Non-Portuguese Families in China. Third International Workshop on MJD, 7-9, Azores, 1994.
17. HARDING AE - The clinical features and classification of the late onset autossomal dominant cerebellar ataxias. Brain. 105: 1-28, 1982.
18. HARDING AE - Clinical features and classification of inherited ataxias. Adv Neurol, 61: 1-14, 1993.
19. HBERHAUSEN G, DAMIAN MS, LEWEKE F, MULLER U - Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease. J Neurol Sci, 132: 71-75, 1995.
20. HIGGINS JJ, NEE LE, VASCONCELOS O - Mutations in American families with spinocerebellar (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology, 46: 208-213, 1996.
21. JAIN S, MAHESHWARI ML - Eight families with Joseph's disease in India. Neurology, 40: 128-131, 1990
22. 19a. KANEKO A, NARABAYASHI Y, ITOKAWA K, NAKAZATO Y, HOSOKAWA T, IWASAKI S, OHNO R, HAMAGUCHI K, IKEDA M, NOMURA M-A case of Machado-Joseph disease presenting with spastic paraparesis. J Neurol Neurosurg Psychiatry, 62: 542-543, 1997.
23. KAWAGUSHI Y, OKAMOTO T, TANIWASHI M et al. -CAG expansion in a novel gene for Machado Joseph disease at chromosome 14q32.1. Nature Genet, 8: 221-228, 1994
24. KONIGSMARK BW, WEINER LP - The olivopontocerebellar atrophies: a review. Medicine, 49: 227-241, 1970.
25. LANG AE, ROGEAVA AE, TSUDA T, HUTTERER J, HYSLOP P - Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol, 36: 443-447, 1994.
26. LIMA L, COUTINHO P - Clinical criteria for diagnosis of Machado-Joseph disease. Neurology, 30: 319-322, 1980.
27. LIVINGSTONE IR, SEQUEIROS J, Machado-Joseph disease in an American-Italian family. J Neurogenet, 1: 185-188, 1984.
28. 24a. LOU JS, GOLDFARB L, MCSHANE L, GATEV P, HALLETT M - Use of buspirone for treatment of cerebellar ataxia. An open-label study. Arch Neurol, 52: 982-988, 1995.
29. MACIEL P, GASPAR C, DE STEFANO AL et al. - Correlation between CAG repeats length and clinical features in Machado-Joseph disease. Am J Hum Genet, 53: 54-61, 1995.
30. MANDEL JL - Trinucleotide diseases on the rise. Nat Genet, 7: 453-455, 1994.
31. MARIE P - Sur l'heredoataxie cerebelleuse. Sem de Medicine, 13: 444-447, 1893.
32. MARUYAMA H, NAKAMURA S, MATSUYAMA Z et al. - Molecular features of CAG repeats and clinical manifestations of Machado-Joseph disease. Hum Mol Genet, 4: 807-812, 1995.
33. MENZEL P - Beitrag zur Kenntniss der hereditären Ataxie und Kleinhirnatrophie. Archiv für Psychiatrie und Nervenkrankheiten, 22: 1860-1901, 1891.
34. NAKANO K, DAWSON D, SPENCE A - Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology, 22: 49-55, 1972.
35. HYSLOP P, ROGAEVA E, HUTERER J et al. - Machado-Joseph disease in pedigrees descent is linked to chromosome 14. Am J Hum Genet, 55: 120-125, 1994.
36. PEU-SERRADELL A - Maladie de Machado-Joseph dans une famille d'origine espagnole. Rev Neurol (Paris), 134: 520-525, 1987.
37. RADVANY J, CAMARGO CHP, FONSECA NC, NASCIMENTO MD - Machado-Joseph disease of Azorean ancestry in Brazil: the Catarina kindred. Neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the "Catarina" kindred. Arq Neuropsiquiatr, 51: 21-30, 1993.
38. RANUM LPW, LUNDGREN JK, SCHUT LJ et al - Spinocerebellar ataxia type I and Machado-Joseph disease: Incidence of CAG expansions among adultonset ataxia patients from 311 families with dominant, recessive or sporadic ataxia. Am J Hum Genet, 57: 603-608, 1995.
39. ROMANUL FCA, FOWLER HL, RADVANY J, FELDMAN RG, FEINGOLD M et at. - Azorean disease of the nervous system. N Engl J Med, 296: 1505-1508, 1977.
40. ROSENBERG R N, NYHAN WL, BAY C, SHORE P - Autosomal dominant striatonigral degeneration, a clinical, pathologic and biochemical study of a new genetic disorder. Neurology, 26: 703-714, 1976.
41. ROSENBERG RN - Joseph's Disease: An Autossomal Dominant Neurological Disease in the Portuguese of the United States and Azores Islands. Advances in Neurology, vol 21 . (Raven Press - New York, 33-57, 1978).
42. ROSENBERG RN - Genetic Neurological Diseases. In: The Clinical neuroscience (Rosemberg RN ed. - New York: Churchil-Livingstone, 33-165, 1983).
43. ROSENBERG RN, FOWLER HL - Machado-Joseph disease: An autosomal dominant motor system deseneration: review. Mov Disord, 7: 193-203, 1992.
44. ROSENBERG RN - Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology. 45: 1-5, 1995.
45. SAKAI T, OHTA M, ISHINO H - Joseph disease in a non-Portuguese family. Neurology, 33: 74-80, 1983.
46. SASAKI H, WAKISAKA A, TAKADA A et al. - Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by DI 4S291/DI 4S280 and DI 4S81, on the basis of studies of linkage disequilibrium in 24 Japanese families. Am J Hum Genet, 56: 231-242, 1995.
47. SCHOLS L, AMOIRIDIS G, LANGKAFEL M et al. - Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany (letter). J Neurol Neurosurg Psychiatry, 59: 449-450, 1995.
48. SCHOLS L, VIEIRA-SAECKER AMM, SCHOLS S et al. - Trinucleotide expansion within the MJD gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum Mol Genet, 4: 1001-1005, 1995.
49. SILVEIRA I, CENDES IL, KISH S et al. - Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology, 46: 214-218, 1996.
50. STEVANIN G, CANCEL G , DIDIERJEAN O et al. - Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet, 57: 1247-1250, 1995.
51. STEVANIN G, SOUSA PS, CANCEL G et al. - The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. Neurobiol Dis, 1: 79-82, 1995.
52. SUDARSKY L - Machado-Joseph disease in New England. Clinical description and distinction from the olivopontocerebellar atrophies. Mov Disord, 7: 204-208, 1992.
53. TAKIYAMA Y, NISHIZAWA M, TANAKA H et al. - The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet, 4: 300-304, 1993.
54. TAKIYAMA Y, OYANAGI S, KAWASHIMA S et al. - A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology, 44: 1302-1308, 1994.
55. TAMAIN RH - Principles of Genetics. 4th ed. (W. C. Brown Publishers - New York, 1993), pp. 15-43.
56. TWIST EC, CASAUBON LK, RUTTLEDGE MH et al. - Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia 3 locus. J Med Genet, 32: 25-31, 1995.
57. TUITE PJ, ROGAEVA EA, HYSLOP PH, LANG AE. - Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol, 38: 684-687, 1995.
58. WILLEMS PJ - Dynamic mutations in double figures. Nat Genet, 8: 213-215, 1994.
59. WOODS BI, SCHAUMBURG H - Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J Neurol Sci, 17: 149-166, 1972.