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Achalasia of the cardia associated with hereditary cerebellar ataxia
M S Murphy1, D Gardner-Medwin, E J Eastham
1Department of Child Health, University of Newcastle-upon-Tyne, England.
Insights
Achalasia of the cardia, a rare esophageal disorder, is linked to early onset cerebellar ataxia with retained reflexes, a progressive neurological condition. This association suggests potential shared genetic or pathogenetic mechanisms between these two rare neurodegenerative diseases.
Area of Science:
- Neuroscience
- Gastroenterology
- Genetics
Background:
- Achalasia of the cardia involves degenerative loss of esophageal myenteric ganglion cells.
- A rare progressive neurological disorder, "early onset cerebellar ataxia with retained reflexes," has been recently described.
- This specific cerebellar ataxia is presumed to be inherited in an autosomal recessive pattern.
Abstract:
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.