ABSTRACT NUMBER: ESOC2026A1778 NEUROPSYCHIATRIC AND MRI FINDINGS IN TREX1 MUTATION CARRIERS: LESSONS FROM A SMALL VESSEL DISEASE
Irene de Boer, Nadine Pelzer, Evelien Hoogeveen, Annelise Wilms, Estelle van Eijk, Roos Bunnik, Matthias van Osch, Mark Kruit, A M Hubertus, Gisela Terwindt · 2026
Read ABSTRACT NUMBER: ESOC2026A1778 NEUROPSYCHIATRIC AND MRI FINDINGS IN TREX1 MUTATION CARRIERS: LESSONS FROM A SMALL VESSEL DISEASE by Irene de Boer, Nadine Pelzer, Evelien Hoogeveen, Annelise Wilms, Estelle van Eijk, Roos Bunnik, Matthias van Osch, Mark Kruit, A M Hubertus, Gisela Terwindt (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-13145584.txt.
Description
Irene de Boer and co-authors present a 2026 conference study on thinking, mood, and scan finds in carriers of a gene fault behind a rare vessel disease. The illness, called RVCL-S, harms small vessels in eye and brain and can end in dementia. The team tested carriers against matched healthy peers.
Twenty-nine carriers took a full battery of thinking tests. As a group they showed more thinking and daily function loss, plus more mood trouble. Carriers under fifty matched peers on thinking but showed more low mood signs. In older carriers, weaker vessel response on scans tracked with worse thinking and memory. The authors name early low mood as a possible first sign of the disease.
Catalog record
| CREATOR | Irene de Boer, Nadine Pelzer, Evelien Hoogeveen, Annelise Wilms, Estelle van Eijk, Roos Bunnik, Matthias van Osch, Mark Kruit, A M Hubertus, Gisela Terwindt |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 3 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |