Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX
Ana C Fiorini, Carla A Scorza, Fulvio A Scorza, Josef Finsterer · 2026
Read Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX by Ana C Fiorini, Carla A Scorza, Fulvio A Scorza, Josef Finsterer (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13573666.txt.
Description
Ana Fiorini and three co-authors report a new genetic pairing behind a rare movement disorder in this 2026 letter. The disorder, ataxia with oculomotor apraxia type 2, brings unsteady gait, failed voluntary eye movements, and nerve damage. It comes from faults in the SETX gene, which helps repair DNA and RNA. Their patient, a thirty-two-year-old man, carried two different faulty copies: one inherited from his mother, one brand new in him.
Symptoms began at twenty-eight with gait trouble and headaches. Speech slurred from thirty-one, double vision came and went, and by thirty he needed a walking aid. At thirty-two he could still eat and dress alone but needed help with hygiene. The case widens the known genetic range of the disorder. It also shows a de novo variant arising on top of an inherited one, a pattern genetic counselors should keep in mind.
Catalog record
| CREATOR | Ana C Fiorini, Carla A Scorza, Fulvio A Scorza, Josef Finsterer |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 7 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |