A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

@article{Koide1999AND,
  title={A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?},
  author={Reiji Koide and Shin Kobayashi and Takayoshi Shimohata and Takeshi Ikeuchi and Mieko Maruyama and Masaaki Saito and Masao Yamada and Hirokazu Takahashi and Shoji Tsuji},
  journal={Human molecular genetics},
  year={1999},
  volume={8 11},
  pages={2047-53}
}
To investigate whether the expansion of CAG repeats of the TATA-binding protein (TBP) gene is involved in the pathogenesis of neurodegenerative diseases, we have screened 118 patients with various forms of neurological disease and identified a sporadic-onset patient with unique neurologic symptoms consisting of ataxia and intellectual deterioration associated with de novo expansion of the CAG repeat of the TBP gene. The mutant TBP with an expanded polyglutamine stretch (63 glutamines) was… CONTINUE READING
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