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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

References

Andermann, E, Remillard, GM, Goyer, C, Blitzer, L, Andermann, F and Barbeau, A (1976) Genetic and Family Studies in Friedreich’s Ataxia. Can J Neurol Sci 3: 287–301.CrossRefGoogle ScholarPubMed
Barbeau, A (1970) Parental ascent in the juvenile form of Huntington’s chorea. The Lancet 2, 937.CrossRefGoogle ScholarPubMed
Barbeau, A and Giroux, JM (1972) Erythrokeratodermia with ataxia. Trans Amer Neurol Ass 97: 55–56.Google Scholar
Chazot, G, Knopp, K, Barbeau, A, Trillet, M and Schott, B (1983) La maladie de Joseph (2 cas dans une famille française). Rev Neurol (Paris) 139: 228.Google Scholar
Cooper, JA, Nakada, T, Knight, RT and Frieland, RP (1983) Autosomal dominant motor system degeneration in a black family. Ann Neurol 14: 585–587.CrossRefGoogle Scholar
Coutinho, P and Andrade, C (1978) 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 28: 703–709.CrossRefGoogle ScholarPubMed
Coutinho, P, Calheiros, JM and Andrade, C (1977) Sobre urna nova doença degenerativa do sistema nervoso central transmitida de modo autossomico dominante e afectando familias originarías dos Açores-nota Prévia. 0 Medico 82: 1–3.Google Scholar
Coutinho, P, Guimaráes, A and Scaravilli, F (1982) The Pathology of Machado-Joseph Disease — Report of a Possible Homozygous Case. Acta Neuropatholol (Berl) 58: 48–54.CrossRefGoogle ScholarPubMed
Dawson, DM (1977) Ataxia in families from the Azores. New Engl J Med 296: 1529–1530.CrossRefGoogle ScholarPubMed
Dawson, DM, Feudo, P, Zubick, HH, Rosenberg, R and Fowler, H (1982) Electro-oculographic findings in Machado-Joseph disease. Neurology 32: 1272–1276.CrossRefGoogle ScholarPubMed
Day, NE (1969) Estimating the components of a mixture of normal distributions. Biometrika 56: 463–479.CrossRefGoogle Scholar
Fowler, HL, De Magalhaes, J and Rogers, FM (1977) Azorean disease of the nervous system. New Engl J Med 297:729.Google Scholar
Giroux, JM and Barbeau, A (1972) Erythrokeratodermia with ataxia. Arch Derm 106: 183–188.CrossRefGoogle ScholarPubMed
Goto, I, Tobimatsu, S, Ohta, M, Hosokawa, S, Shibasaki, H and Kuroiwa, Y (1982) Dentatorubro-pallidoluysian degeneration: clinical, neuroophthalmologic, biochemical, and pathologic studies of autosomal dominant form. Neurology 32: 1395–1399.CrossRefGoogle Scholar
Greenfield, JG (1954) The spino-cerebellar degenerations. Blackwell Scientific Pub pp 1-111. Harding AE (1981) Genetic aspects of autosomal dominant late onset cerebellar ataxia. J Med Genetics 18: 436–441.Google Scholar
Healton, EB, Brust, JCM, Kerr, DL, Resor, S and Penn, A (1980) Presumably Azorean disease in a presumably non-Portuguese family. Neurology 30: 1084–1089.CrossRefGoogle Scholar
Konigsmark, B and Weiner, L (1970) The olivopontocerebellaratrophies: a review. Medicine (Baltimore) 49: 227–241.CrossRefGoogle ScholarPubMed
Lima, L and Coutinho, P (1980) Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non Azorean Portuguese family. Neurology 30: 319–322.CrossRefGoogle ScholarPubMed
Mars, H, Lewis, LA, Robertson, AL, Butkus, A and Williams, GH (1969) Familial hypo-beta-lipoproteinemia. A genetic disorder of lipid metabolism with nervous system invol vment. Am J Med 46: 886–900.CrossRefGoogle Scholar
Morrison, MR and Rosenberg, RN (1983) Specific messenger RNA changes in Joseph disease cerebellum. Ann Neurol 14: 74–79.CrossRefGoogle Scholar
Myers, RH, Madden, JJ, Teague, JL and Falek, A (1982) Factors related to onset age of Huntington disease. Am J Hum Genet 34: 481–488.Google ScholarPubMed
Nakano, KK, Dawson, DM and Spence, A (1972) Machado disease — A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 22: 49–55.CrossRefGoogle ScholarPubMed
Nielsen, SL (1971) Striatonigral degeneration disputed in familial disorder. Neurology 27: 306.CrossRefGoogle Scholar
Pourcher, E and Barbeau, A (1980) Field testing of an ataxia scoring and staging system. Can J Neurol Sci 7: 339–344.CrossRefGoogle ScholarPubMed
Romanul, FCA (1977) Azorean disease of the nervous system (reply). New Engl J Med 297: 729–730.Google Scholar
Romanul, FCA, Fowler, HL, Radvany, J, Feldman, RG and Feingold, M (1977) Azorean disease of the nervous system. New Engl J Med 296: 1505–1508.CrossRefGoogle ScholarPubMed
Rosenberg, RN (1977a) Azorean disease of the nervous system. New Engl J Med 297: 729.Google Scholar
Rosenberg, RN (1977b) Striatonigral degeneration disputed in familial disorder (reply). Neurology 27: 306.CrossRefGoogle Scholar
Rosenberg, RN and Fowler, HL (1981) Autosomal dominant motor system disease ofthe Portuguese: A re view. Neurology 31: 1124:1126.CrossRefGoogle Scholar
Rosenberg, RN, Ivy, N, Kirkpatrick, J, Bay, C, Nyhan WLand Baskin, F (1981) Joseph disease and Huntington disease: protein patterns in fibroblasts and brain. Neurology 31: 1003:1014.CrossRefGoogle ScholarPubMed
Rosenberg, RN, Nyhan, WL, Bay, C and Shore, P (1976) Autosomal dominant stritonigral degeneration — A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 26: 703–714.CrossRefGoogle Scholar
Rosenberg, RN, Nyhan, WL, Coutinho, P and Bay, C (1978) Joseph’s disease: An autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. Advances in Neurology 21: 33–57.Google ScholarPubMed
Rosenberg, RN, Thomas, L, Baskin, F, Kirkpatrick, J, Bay, C and Nyhan, WL (1979) Joseph disease: Protein patterns in fibroblasts and brain. Neurology 29: 917–926.CrossRefGoogle ScholarPubMed
Sachdev, HS, Forno, LS and Kane, CA (1982) Joseph disease: A multisystem degenerativedisorderofthenervoussystem. Neurology 32: 192–195.CrossRefGoogle Scholar
Sakai, T, Ohta, M and Ishino, H (1983) Joseph disease in a non-Portuguese family. Neurology 33: 74–80.CrossRefGoogle Scholar
Schut, JW (1950) Hereditary ataxia: Clinical study through six generations. Arch Neurol Psychiat (Chic) 63: 535–568.CrossRefGoogle Scholar
Schut, JW and Book, JA (1963) Hereditary ataxia. Arch Neurol Psychiat (Chic) 70: 169–179.CrossRefGoogle Scholar
Schut, JW and Haymaker, W (1951) Hereditary ataxia; a pathologic study of five cases of common ancestry. J Neuropath Clin Neurol 1: 183–213.Google ScholarPubMed
Sequeiros, J and Coutinho, P (1981) Genetic aspects of Machado-Joseph disease. Broteria-Genetica (Lisboa) 77: 137–147.Google Scholar
Wadia, NH and Swami, RK (1971) A new form of heredofamilial spinocerebellar degeneration with slow eye movements (nine families). Brain 94: 359–374.CrossRefGoogle ScholarPubMed
Wastiaux, JP, Lamoureux, G, Bouchard, JP, Durivage, A, Barbeau, C and Barbeau, A (1978) HLA and complement typing in olivopontocerebellar atrophy. Can J Neurol Sci 5: 75–81.CrossRefGoogle Scholar
Woods, BT and Schaumburg, HH (1972) Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia — A unique and partially treatable clinicopathological entity. J Neurol Sci 17: 149–166.CrossRefGoogle Scholar
Woods, BT and Schaumburg, HH (1975). Nigrospinodentatal degeneration with nuclear ophthalmoplegia. In: Handbook of Clinical Neurology, vol 22. Vinken, PJ and Bruyn, G (eds). North Holland Publishing Co, Amsterdam, pp 157–176.Google Scholar