ArticleChild neurology open
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Article in Child neurology open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- Clinical and Electrodiagnostic Characterization of Pediatric Triple A Syndrome: A Cohort of 17 Patients.Muscle & nerve · 2026Article
- Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature review.Orphanet journal of rare diseases · 2026Review
- Toward a deeper and more comprehensive understanding of neurological symptoms related to Allgrove syndrome: a case report.Annals of medicine and surgery (2012) · 2026Article
- Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.Neurogenetics · 2026Article
- Triple A Syndrome-A Rare Hereditary Cause of Achalasia.ACG case reports journal · 2025Article
- Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.Frontiers in endocrinology · 2025Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Allgrove or "Triple A" syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms. Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features. We report an 11-year-old boy who presented with neurological symptoms of progressive spasticity and peripheral neuropathy. His neurophysiological testing confirmed a sensorimotor polyneuropathy with axonal and demyelinating features. Exome sequencing identified compound heterozygote variants in the
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Registered trials
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