Machado disease

Analysis of segregation patterns in Machado–Joseph disease pedigrees

“…As a member of the SCA group, MJD is considered the most common form of SCA worldwide (Cagnoli et al 2006). The Azores, a group of Portuguese Islands to where the first descriptions of MJD trace (Nakano et al 1972;Woods and Schaumburg 1972), remain the most important cluster of this disease. To date, 32 extended MJD families with origins in Flores, S. Miguel, Terceira and Graciosa islands, were identified (MJD prevalence by January 2008 *1:3,472).…”

Diagnóstico de Ataxia Espinocerebelosa tipo 3 (Enfermedad de Machado-Joseph) en Chile

“…De las ataxias heredadas en forma dominante (más de 30 tipos ya descritos) la más frecuente a nivel mundial es la enfermedad de Machado-Joseph (el gen fundador es de origen portugués) llamada también ataxia espinocerebelosa tipo 3 [1][2][3][4] . Fue descrita en 1972 en Estados Unidos en 3 familias de apellidos Machado, Joseph y Thomas, emigrantes de origen en las islas Azores, Portugal 5,6 .…”

Mouse Models of Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease)

“…Machado-Joseph disease (MJD), also called spinocerebellar ataxia type 3 (SCA3), was described between 1972 and 1995, and it has been given 10 different names: 1) Machado disease [1]; 2) nigro-spino-dentatal degeneration with nuclear ophthalmoplegia [2]; 3) autosomal dominant striatonigral degeneration [3]; 4) Azorean disease of the nervous system [4]; 5) autosomal dominant system degeneration [5]; 6) Joseph disease [6]; 7) autosomal dominant motor system degeneration [7]; 8) MJD disease [8,9]; 9) Machado-Joseph Azorean disease [10]; and 10) SCA3 [11]. Finally, SCA3 was found to be genetically identical to MJD [12].…”