dentatorubral-pallidoluysian atrophy
Last reviewed 01/2018
This is a rare neurodegenerative disease reported mostly in Japan. It is characterised by epilepsy, chorea and ataxia.
It is caused by the expansion of a CAG nucleotide repeat in a gene on chromosome 12.
Like Huntington's disease the onset of the symptoms are earlier, and the disorder more severe, if the defective gene is inherited paternally.
Early onset and severe symptoms are more marked the longer the CAG repeat.
Refs: Koide, R. et al. (1994). Nature Genet. 6, 9-13.