Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.

@article{Nozaki2007ClinicalAG,
  title={Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.},
  author={H Nozaki and Takeshi Ikeuchi and Akio Kawakami and Akio Kimura and Reiji Koide and Miyuki Tsuchiya and Yuusaku Nakmura and Tatsuro Mutoh and Hiroko Yamamoto and Naoki Nakao and K O Sahashi and Masatoyo Nishizawa and Osamu Onodera},
  journal={Movement disorders : official journal of the Movement Disorder Society},
  year={2007},
  volume={22 6},
  pages={857-62}
}
Autosomal dominant spinocerebellar ataxias (AD-SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5'-untranslated region of the puratrophin-1 gene was found to be associated with one type of AD-SCA linked to chromosome 16q (16q-SCA). To obtain further insight into the contribution of the C-to-T substitution in the puratrophin-1 gene to the clinical and genetic characteristics of patients with 16q-SCA, we… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 12 extracted citations

Similar Papers

Loading similar papers…