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

Luigetti, M; Pizzuti, A; Bartoletti, S; Houlden, H; Pirro, C; Bottillo, I; Madia, F; ... Sabatelli, M; + view all (2010) Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J NEUROL SCI , 290 (1-2) 150 - 152. 10.1016/j.jns.2009.12.005.

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Abstract

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 significant central and peripheral nervous system involvement. She was later diagnosed with oligosymptomatic triple A syndrome. Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p.L430F - c.1288C>T and c.1331 + 1G>T), one of which is novel. Allgrove syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima, achalasia or adrenal insufficiency). (C) 2009 Elsevier B.V. All rights reserved.

Type: Article
Title: Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency
DOI: 10.1016/j.jns.2009.12.005
Keywords: Allgrove syndrome, Genetic mutation, Bulbar involvement, WD-REPEAT PROTEIN, ALLGROVE-SYNDROME, A SYNDROME, ACHALASIA, ALACRIMA, AMYOTROPHY, RESISTANCE, ADULTHOOD
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/373520
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