Reconstructing the History of Machado-Joseph Disease-Reference-Cited by-同舟云学术

Reconstructing the History of Machado-Joseph Disease

Published:2020 Issue:1 Volume:83 Page:99-104
ISSN:0014-3022
Container-title:European Neurology
language:en
Short-container-title:Eur Neurol

Author:

Meira Alex Tiburtino,Pedroso José Luiz,Boller François,Franklin Gustavo Leite,Barsottini Orlando Graziani Povoas,Teive Hélio Afonso Ghizoni

Abstract

Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, was originally described in members of the families of Machado, Thomas, and Joseph from São Miguel Island, Azores, Portugal, in 1972. The purpose of this article is to present previous descriptions of hereditary ataxia resembling the heterogeneous phenotypic intra-familiar presentation of MJD. We suggest that the condition would best be called dominant spino-pontine atrophy.

Publisher

S. Karger AG

Subject

Clinical Neurology,Neurology

Reference24 articles.

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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. Neurology. 1978;28(7):703–9.

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