Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

@article{Flanigan1996AutosomalDS,
  title={Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.},
  author={Kevin M. Flanigan and Kathy L. Gardner and K S Alderson and B Galster and B. Otterud and Mark F. Leppert and C{\'e}cile Kaplan and Louis J. Pt{\'a}cek},
  journal={American journal of human genetics},
  year={1996},
  volume={59 2},
  pages={392-9}
}
The hereditary ataxias represent a clinically and genetically heterogeneous group of neurodegenerative disorders. Various classification schemes based on clinical criteria are being replaced as molecular characterization of the ataxias proceeds; so far, seven distinct autosomal dominant hereditary ataxias have been genetically mapped in the human genome. We report linkage to chromosome 16q22.1 for one of these genes (SCA4) in a five-generation family with an autosomal dominant, late-onset… CONTINUE READING