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2020•European NeurologyOpen access

Reconstructing the History of Machado-Joseph Disease

Alex Tiburtino Meira, José Luiz Pedroso, François Boller, Gustavo L. Franklin, Orlando Graziani Póvoas Barsottini, Hélio Afonso Ghizoni Teive

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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.

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What this paper is about

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.

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Available 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.

Key concepts: Machado–Joseph disease, Spinocerebellar ataxia, Ataxia, Degenerative disease, Atrophy, Presentation (obstetrics), Neuroscience, Psychology

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