Achalasia of the cardia associated with hereditary cerebellar ataxia

Am J Gastroenterol. 1989 Oct;84(10):1329-30.


Achalasia of the cardia, a disorder associated with degenerative loss of esophageal myenteric ganglion cells, is reported in association with a recently described progressive neurological disorder, "early onset cerebellar ataxia with retained reflexes." This form of cerebellar ataxia is thought to be inherited as an autosomal recessive disorder. The occurrence of these two very rare neurodegenerative disorders in a single individual is of interest because of the potential genetic and pathogenetic implications of the association.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Esophageal Achalasia / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Reflex / physiology
  • Spinocerebellar Degenerations / genetics*