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

Published online by Cambridge University Press:  18 September 2015

A. Barbeau ,
M. Roy ,
L. Cunha ,
A.N. de Vincente ,
R.N. Rosenberg ,
W.L. Nyhan ,
P.L. MacLeod ,
G. Chazot ,
L.B. Langston  and
D.M. Dawson
...Show all authors
A. Barbeau*
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
M. Roy
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
L. Cunha
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
A.N. de Vincente
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
R.N. Rosenberg
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
W.L. Nyhan
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
P.L. MacLeod
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
G. Chazot
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
L.B. Langston
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
D.M. Dawson
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
P. Coutinho
Affiliation:
Clinical Research Institute of Montreal, The University of Coimbra, Portugal, The University of Texas, Dallas, The University of California at Los Angeles, Queens University, Kingston, Canada, The University of Lyon, France, Stanford University CA, Boston University and the University of Porto, Portugal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W 1R7
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Abstract

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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 patient, 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 historical reasons, “Machado-Joseph Disease”.

This hereditary disease has an autosomal dominant pattern of inheritance, presenting 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 nature but often so severe that it can be accompanied by “Gegenhalten” countermovements and dystonic postures but little frank dystonia. There are few true 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 c.ontinuum 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.

Type
A—Clinical Studies
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 510 - 525
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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