Burt T

Currie, Bart

Kilburn, Charles

Lethlean AK

Dempsey Karen

Blair I

Cohen A

Nicholson G

1996-04-01

Four kindreds of east Arnhem Land Australian aboriginal people from Groote Eylandt and adjacent communities display symptoms of 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 and pathologically consistent with Machado-Joseph disease (MJD), and there is the possibility of Portuguese ancestry. These families exhibit anticipation, particularly in the case of paternal inheritance, with those with earlier age of onset presenting a clinical pattern consistent with MJD type I. There was no expansion of the CAG repeat region of the SCA1 gene in these families. The demonstration of expansion of the CAG repeat on chromosome 14q32.1 in all four families confirms the diagnosis of MJD.

Menzies School of Health Research, Darwin, Australia.

Neurology . 1996 Apr;46(4):1118-22. doi: 10.1212/wnl.46.4.1118.

https://pubmed.ncbi.nlm.nih.gov/8780102/?otool=iaurydwlib

https://hdl.handle.net/10137/11614

46

Australia

Base Sequence

*Chromosomes, Human, Pair 14

Humans

Machado-Joseph Disease/*genetics/physiopathology

Male

Middle Aged

Molecular Sequence Data

Oceanic Ancestry Group/*genetics

Oligonucleotide Probes/genetics

Pedigree

Repetitive Sequences, Nucleic Acid

Machado-Joseph disease in east Arnhem Land, Australia: chromosome 14q32.1 expanded repeat confirmed in four families.

Journal Article

Publication