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.
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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