Short ReportsA Novel DNA Sequence Variation in the First Genetically Confirmed Allgrove Syndrome in IranHaghighi, Afshin Borhani MD*; Houlden, Henry MD†; Lankarani, Kamran Bagheri MD‡; Taghavi, Alireza MD‡; Masnadi, Kurosh MD‡; Ashraf, Ali Reza MD§; Safari, Anahid¶Author Information Departments of *Neurology ‡Internal Medicine §Physical Medicine and Student Research Committee, Shiraz University of Medical Sciences, Islamic Republic of Iran †Department of Clinical Neurology, Institute of Neurology, London, UK Reprints: Afshin Borhani Haghighi, Department of Neurology, Nemazee Hospital, Shiraz 71397, Iran (e-mail: [email protected]). Journal of Clinical Neuromuscular Disease: March 2006 - Volume 7 - Issue 3 - p 123-127 doi: 10.1097/01.cnd.0000208261.93426.ab Buy Metrics Abstract Allgrove syndrome or triple-A syndrome is an autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. Affected patients may also present with a constellation of central and peripheral nervous system manifestations. The gene for Allgrove syndrome (ALADIN) is located on chromosome 12q13. Here we report a 23-year-old man with alacrimia, achalasia, optic atrophy and progressive amyotrophic lateral sclerosis-like presentations. Sequencing of ALADIN gene showed a novel 6-bp sequence variant that the patient was homozygous and his father was heterozygous for the defect. A probable mechanism of action of this newly diagnosed missense mutation would be to cause abnormal splicing of the ALADIN gene. © 2006 Lippincott Williams & Wilkins, Inc.