Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients

Asan Medical Center

Status: Completed

Conditions: Achalasia; Alacrima

Study type: Observational

Funder types: Other

Identifiers

NCT00856921

AAASachalasia

Details and patient eligibility

About

The AAAS gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients have been known to show alacrima (decreased secretion of tears). However, the genetic mechanism between achalasia and alacrima has not been defined yet. The investigators postulated that some proportions of early-onset achalasia could be correlated with AAAS gene; thus, the investigators aimed to investigate the relationship between the AAAS gene and early-onset achalasia.

Enrollment: 19 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• early age onset
• primary achalasia patient
• less than 35 years old

Exclusion criteria

• secondary achalasia patients