title: Triple A syndrome mimicking ALS.
abstract: We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.
authors.affiliation: Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.
authors.forename: Maria
authors.initials: M
authors.lastname: Strauss
authors.forename: Katrin
authors.initials: K
authors.lastname: Koehler
authors.forename: Manuela
authors.initials: M
authors.lastname: Krumbholz
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
mesh_terms: D000303:Adrenal Cortex Diseases / Q000175:diagnosis / Q000503:physiopathology; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000503:physiopathology; D025063:Chromosome Disorders / Q000175:diagnosis / Q000503:physiopathology; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000503:physiopathology; D005260:Female; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins