DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.

@article{Komure1995DNAAI,
  title={DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.},
  author={Osamu Komure and Akira Sano and Naoki Nishino and Noriko Yamauchi and Satoshi Ueno and Keiji Kondoh and Nozomi Sano and Masaki Takahashi and Nobuhiro Murayama and Ikuko Kondo},
  journal={Neurology},
  year={1995},
  volume={45 1},
  pages={143-9}
}
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with variable clinical phenotypes. Progressive ataxia, choreoathetosis, and dementia are the main clinical features of adult-onset cases, whereas the main feature in juvenile-onset DRPLA is progressive myoclonus epilepsy. Earlier onset is apparent in successive generations (anticipation). The molecular abnormality underlying DRPLA is an expanded, unstable CAG trinucleotide repeat on… CONTINUE READING

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