Machado-Joseph disease in east Arnhem Land, Australia

• DOI: 10.1212/wnl.46.4.1118
• Publication Date: 2012-05-13T13:19:17Z
• Authors: T. Burt; B. Currie; C. Kilburn; A.K. Lethlean; K. Dempsey; I. Blair; A. Cohen; G. Nicholson
• Keywords: Machado–Joseph disease; Penetrance; Anticipation (artificial intelligence); Inheritance

Four kindreds of east Arnhem Land Australian aboriginal people from Groote Eylandt and adjacent communities display symptoms a similar spinocerebellar degeneration (multiple-system degenerative disease). The familial pattern indicates an autosomal dominant inheritance, though with varying penetrance in different families. This condition is clinically pathologically consistent Machado-Joseph disease (MJD), there the possibility Portuguese ancestry. These families exhibit anticipation, particularly case paternal those earlier age onset presenting clinical MJD type I. There was no expansion CAG repeat region SCA1 gene these demonstration on chromosome 14q32.1 all four confirms diagnosis MJD. <b>NEUROLOGY 1996;46: </b> 1118-1122