... WhatsApp
Facebook X-twitter Linkedin Youtube Instagram
Dr Harsh Shah - GI & HPB OncoSurgeon
Dr Harsh Shah - GI & HPB OncoSurgeon

Rare Gene Variant Linked to More Nerve Problems in Allgrove Syndrome

You are here >> Home > Latest Updates > Achalasia Cardia > Rare Gene…

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.DOI 10.1007s10048-025-00870-3

Allgrove syndrome is a rare disease that affects many parts of the body. It’s also called “Triple A Syndrome” because of its three main symptoms: difficulty swallowing due to achalasia, dry eyes from no tears (alacrimia), and problems with the adrenal glands that don’t respond to stress hormones properly.But this condition can also cause nerve and muscle problems, which are sometimes harder to notice at first. A new study looked at 206 patients with Allgrove syndrome and found that most people with a specific gene change—called p.Ser263Pro—had serious neurological symptoms.

This gene change affects the AAAS gene and is more common in people of Slavic background. Almost all patients (97%) with this version of the gene had nerve-related issues, like muscle weakness, trouble walking, or poor coordination. The classic signs of Allgrove syndrome (trouble swallowing, no tears, and adrenal problems) were seen equally in all groups. But the extra nerve symptoms may help doctors spot this gene variant earlier.Because this gene version seems to be passed down more often in certain families or regions, it may have started from a common ancestor—a concept called a “founder mutation.”If someone has symptoms like unexplained swallowing problems, dry eyes, and low energy, along with nerve issues, they may want to ask their doctor about testing for Allgrove syndrome—especially if they have Slavic roots.

 

DOI: 10.1007/s10048-025-00870-3

Rate this post
Dr Harsh Shah - GI & HPB Oncosurgeon in Ahmeadbad
Privacy Overview

This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.