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Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.

Neurogenetics - 7 Jan 2026

Juścińska Ewa, Gadzalska Karolina, Jakiel Paulina, Gorządek Monika, Pietrusiński Michał, Płoszaj Tomasz, Skoczylas Sebastian, Starosz Klaudia, Borowiec Maciej, Pastorczak Agata, Zmysłowska Agnieszka

Abstract excerpt

Allgrove syndrome (AS) is a rare, multisystem, autosomal recessive disorder characterized by the triad of symptoms: achalasia, alacrimia and ACTH-resistant adrenal insufficiency. Various and nonspecific neurological symptoms can also develop over time, "blurring" the typical course of this underdiagnosed condition. The incidence of Allgrove syndrome is unknown. Orphanet database reports fewer than 100 published...

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Identifiers

PMID: 41498959
DOI: 10.1007/s10048-025-00870-3
PMCID: PMC12779696

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.PMID 41498959Read ↗

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant of the AAAS geneSemantic proximity Read ↗

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