1 Arquivos de Neuro-Psiquiatria 2012 Vol: 70(8):. DOI: 10.1590/S0004-282X2012000800013

Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.

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References
  1. Nakano KK, Dawson DM, Spence A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology22 , 49-55 (1972) .
  2. Woods BT, Schaumburg HH. Nigro-spinal-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J Neurol Sci17 , 149-166 (1972) .
  3. Rosenberg RN. Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration: a clinical, pathologic and biochemical study of a new genetic disorder. Neurology26 , 703-714 (1976) .
  4. Romanul FCA, Fowler HL, Radvany J, Feldman RG, Feingold M. Azorean disease of the nervous system. N Engl J Med296 , 1505-1508 (1977) .
  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. Neurology28 , 703-709 (1978) .
  6. Radvany J, Avila JO, Gabbai AA, Bacheschi LA. Doença de Machado-Joseph no Brasil. O relato das primeiras duas famílias (Abstract). Arq Neuropsiquiatr46:S152 , (1988) .
  7. Teive HA, Arruda WO, Trevisol-Bittencourt PC. Machado-Joseph disease: description of 5 members of a family. Arq Neuropsiquiatr49 , 172-179 (1991) .
  8. Radvany J, Camargo CH, Costa ZM, Fonseca NC, Nascimento ED. 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 Neuropsiquiatr51 , 21-30 (1993) .
  9. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet4 , 300-304 (1993) .
  10. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet8 , 221-228 (1994) .
  11. Lopes-Cendes I, Teive HG, Calcagnotto ME, et al. Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients. Arq Neuropsiquiatr55 , 519-529 (1997) .
  12. Iughetti P, Otto PA, Zatz M, Passos Bueno MR, Marie SK. Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families. Am J Med Genet77 , 246-248 (1998) .
  13. Teive HA, Arruda WO. The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease. Arq Neuropsiquiatr62 , 177-180 (2004) .
  14. Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol58 , 899-904 (2001) .
  15. Pedroso JL, Braga-Neto P, Felício AC, et al. Sleep disorders in Machado-Joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features. Cerebellum10 , 291-295 (2011) .
  16. Braga-Neto P, Felicio AC, Pedroso JL, et al. Clinical correlates of olfactory dysfunction in spinocerebellar ataxia type 3. Parkinsonism Relat Disord17 , 353-356 (2011) .
  17. Braga-Neto P, Pedroso JL, Alessi H, et al. Cerebellar cognitive affective syndrome in machado joseph disease: core clinical features. CerebellumOct 6. [Epub ahead of print] , (2011) .
  18. França MC Jr, D'Abreu A, Nucci A, Lopes-Cendes I. Muscle excitability abnormalities in Machado-Joseph disease. Arch Neurol65 , 525-529 (2008) .
  19. Teive HA, Iwamoto FM, Camargo CH, Lopes-Cendes I, Werneck LC. Machado-Joseph disease versus hereditary spastic paraplegia: case report. Arq Neuropsiquiatr59 , 809-811 (2001) .
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