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

Am J Hum Genet. 1996 Aug;59(2):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 spinocerebellar ataxia; the gene is tightly linked to the microsatellite marker D16S397 (LOD score = 5.93 at theta = .00). In addition, we present clinical and electrophysiological data regarding the distinct and previously unreported phenotype consisting of ataxia with the invariant presence of a prominent axonal sensory neuropathy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Axons / pathology
  • Chromosomes, Human, Pair 16*
  • Female
  • Genes, Dominant*
  • Genetic Markers
  • Haplotypes
  • Hereditary Sensory and Autonomic Neuropathies / classification
  • Hereditary Sensory and Autonomic Neuropathies / ethnology
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Scandinavian and Nordic Countries / ethnology
  • Spinocerebellar Degenerations / classification
  • Spinocerebellar Degenerations / ethnology
  • Spinocerebellar Degenerations / genetics*
  • Utah / epidemiology
  • Wyoming / epidemiology


  • Genetic Markers