Abstract

Huntington disease (HD) in indigenous Australians is a poorly analysed and difficult problem. This study addresses the issue of HD in remote indigenous Australian populations in the north-west of Western Australia. Proband identification, clinical assessment, neurogenetic studies and pedigree analysis led to the discovery of HD in the 63-year-old male proband and his family. HD in remote indigenous Australian communities is a challenging diagnostic and management problem compounded by the complexity of distance.

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