The natural history of Machado-Joseph disease - An analysis of 138 personally examined cases

A. Barbeau, M. Roy, L. Cunha, A. N. de Vincente, R. N. Rosenberg, W. L. Nyhan, P. L. MacLeod, G. Chazot, L. B. Langston, D. M. Dawson

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Abstract

We have examined 138 cases of a disorder previously described in people of Portuguese origin and which has received many names. By computer analysis of 46 different items of a standardized neurological examination carried out in each patients, we have been able to delineate the main components of the clinical presentation, to conclude that the marked variability in clinical expressions does not negate the homogeneity of the disorder, and to describe the natural history of this entity which should be called, for histoircal reasons, 'Machado-Joseph Disease'. This hereditary disease has an autosomal dominant pattern of inheritance, - present as a progressive ataxia with external ophthalmoplegia, and should be classified within the group of 'Ataxic multisystem degenerations'. When the disease starts before the age of 20, it may present with marked spasticity, of a non progressive natrue but often so severe that it can be accompanied by 'Gegenhalten' countermovements and dystonic postures but little frank dystonia. There are few ture extrapyramidal symptoms except akinesia. When the disease starts after the age of 50, the clinical spectrum is mostly that of an amyotrophic polyneuropathy with fasciculations accompanying the ataxia. For all the other cases the clinical picture is a continuum between these two extremes, the main determinant of the clinical phenotype being the age of onset and a secondary factor, the place of origin of the given kindred. The ataxic and amyotrophic components are clearly progressive with time in contrast to the spasticity component. Although the majority of known cases are of Portuguese origin, this is not obligatory. The next research endeavour should be a search for the chromosomal site of the gene, using molecular biology technology such as those for recombinant DNA.

Original languageEnglish (US)
Pages (from-to)510-525
Number of pages16
JournalCanadian Journal of Neurological Sciences
Volume11
Issue number4 SUPPL.
StatePublished - 1984

Fingerprint

Machado-Joseph Disease
Muscle Rigidity
Ophthalmoplegia
Inheritance Patterns
Inborn Genetic Diseases
Recombinant DNA
Dystonia
Polyneuropathies
Neurologic Examination
Ataxia
Natural History
Posture
Age of Onset
Names
Molecular Biology
Technology
Phenotype
Research
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Barbeau, A., Roy, M., Cunha, L., de Vincente, A. N., Rosenberg, R. N., Nyhan, W. L., ... Dawson, D. M. (1984). The natural history of Machado-Joseph disease - An analysis of 138 personally examined cases. Canadian Journal of Neurological Sciences, 11(4 SUPPL.), 510-525.

The natural history of Machado-Joseph disease - An analysis of 138 personally examined cases. / Barbeau, A.; Roy, M.; Cunha, L.; de Vincente, A. N.; Rosenberg, R. N.; Nyhan, W. L.; MacLeod, P. L.; Chazot, G.; Langston, L. B.; Dawson, D. M.

In: Canadian Journal of Neurological Sciences, Vol. 11, No. 4 SUPPL., 1984, p. 510-525.

Research output: Contribution to journalArticle

Barbeau, A, Roy, M, Cunha, L, de Vincente, AN, Rosenberg, RN, Nyhan, WL, MacLeod, PL, Chazot, G, Langston, LB & Dawson, DM 1984, 'The natural history of Machado-Joseph disease - An analysis of 138 personally examined cases', Canadian Journal of Neurological Sciences, vol. 11, no. 4 SUPPL., pp. 510-525.
Barbeau, A. ; Roy, M. ; Cunha, L. ; de Vincente, A. N. ; Rosenberg, R. N. ; Nyhan, W. L. ; MacLeod, P. L. ; Chazot, G. ; Langston, L. B. ; Dawson, D. M. / The natural history of Machado-Joseph disease - An analysis of 138 personally examined cases. In: Canadian Journal of Neurological Sciences. 1984 ; Vol. 11, No. 4 SUPPL. pp. 510-525.
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