Open AccessReconstructing the History of Machado-Joseph Disease
Author(s) -
Alex Tiburtino Meira,
José Luiz Pedroso,
François Boller,
Gustavo Leite Franklin,
Orlando Graziani Póvoas Barsottini,
Hélio Afonso Ghizoni Teive
Publication year - 2020
Publication title -
european neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.573
H-Index - 77
eISSN - 1421-9913
pISSN - 0014-3022
DOI - 10.1159/000507191
Subject(s) - machado–joseph disease , spinocerebellar ataxia , ataxia , degenerative disease , atrophy , presentation (obstetrics) , neuroscience , psychology , medicine , central nervous system disease , pathology , surgery
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.