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Article

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

Journal of the neurological sciences - 15 Mar 2010

Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, Bottillo I, Madia F, Conte A, Tonali P A, Sabatelli M

Abstract excerpt

Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene, located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with...

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PMID: 20051279
DOI: 10.1016/j.jns.2009.12.005

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Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.PMID 20051279Read ↗

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Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Semantic proximity Read ↗

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.Semantic proximity Read ↗

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.Semantic proximity Read ↗

Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.Semantic proximity Read ↗

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