Allgrove syndrome

Pathology and genetics

• This is an anterior horn cell disorder that usually manifests in childhood
• 90% of cases are caused by mutations in the AAAS gene on chromosome 12
• The gene encodes ALADIN polypeptide
• The transmission is autosomal recessive

References

1. Gupta J, Chowdhury SR, Jauhari P, et al. Child Neurology: Allgrove syndrome: an intriguing etiology of motor neuron disease in children. Neurology 2024; 102:e208049.
2. Vigano' M, Mantero V, Basilico P, et al. Don't forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker. Neurol Sci 2023; 44:3703-3705.
3. Bitetto G, Lopez G, Ronchi D, et al. SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome. Orphanet J Rare Dis 2023; 18:152.
4. Naseer A, Salih HA, Bhat S, Honnani SS. A rare case of Allgrove syndrome. Indian J Pediatr 2024; 91:104.
5. Kipoğlu O, Manyas H, Mutlu MB, Yılmaz C, Bölük C. Clinical and electrodiagnostic characterization of pediatric triple a syndrome: a cohort of 17 patients. Muscle Nerve 2026; 74:1205-1211.
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Related checklists

• Benign fasciculations
• Post-radiation lower motor neurone syndrome (PRLMNS)
• Seipin-related motor neurone diseases
• Hopkins syndrome
• Wasted leg syndrome