ArticleInternal medicine (Tokyo, Japan)2021
Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations.
Article in Internal medicine (Tokyo, Japan), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.Neurogenetics · 2026Article
- A 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report.Annals of medicine and surgery (2012) · 2024Article
- Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.Child neurology openArticle
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings.
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