The pathology of Machado-Joseph disease - Report of a possible homozygous case

Acta Neuropathologica

Volumn 58, Issue 1, 1982, Pages 48-54

  Coutinho, P ^a   Guimaraes A ^a   Scaravilli, F ^b  

^a Santo Antonio's Hospital   (Portugal)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Ataxias; Heredode generative disease; Machado Joseph disease

Indexed keywords

ADOLESCENT; ATAXIA; AUTOPSY; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CEREBELLAR ATAXIA; DYSTONIA; EXTERNAL OPHTHALMOPLEGIA; HISTOLOGY; MACHADO JOSEPH DISEASE;

ADOLESCENT; CEREBELLAR ATAXIA; HOMOZYGOTE; HUMANS; MALE; MUSCLE SPASTICITY; OPHTHALMOPLEGIA; PEDIGREE;

EID: 0019984434     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/BF00692697     Document Type: Article

References (17)

1. Spino-pontine degeneration
2. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
3. Presumably Azorean disease in a presumably non-Portuguese family
4. An autopsy case of Marie's hereditary ataxia
5. Clinical criteria for diagnosis of Machado-Joseph disease. Report of a non-Azorean Portuguese family
6. Sur la dyssinergie cérébelleuse myoclonique (Hunt)
7. Etudes anatomocliniques sur les atrophies cérébelleuses
8. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts
9. The Babinski response: a review and new observations
10. Azorean disease of the nervous system
11. Autosomal dominant striatonigral degeneration. A clinical, pathological and biochemical study of a new genetic disorder
12. Joseph's disease. An autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands
13. Dominant spinopontine atrophy: report of a family through three generations
14. Aspects cliniques et pathologiques des atrophies pallidales et pallido-luysiennes progressives
15. Hereditary cerebellar ataxia
16. Nigrospinodentatal degeneration with nuclear ophthalmoplegia. An unique and partially treatable clinicopathological entity
17. Nigrospinodentatal degeneration with nuclear ophthalmoplegia