Triple A syndrome mimicking ALS

Maria Strauss, Katrin Koehler, Manuela Krumbholz, Angela Huebner, Stephan Zierz, Marcus Deschauer

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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.

Original languageEnglish
Pages (from-to)315-317
Number of pages3
JournalAmyotrophic Lateral Sclerosis
Issue number5
StatePublished - 2008
Externally publishedYes


  • AAAS gene
  • Amyotrophic lateral sclerosis
  • Triple A syndrome


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