Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review
Lorenzo Corradi, Chiara Ferraro, Fiammetta Tesi, Giorgia Abrignani, Paola Castellini, Lilia Latte, Maria Claudia Trapasso, Antonio Genovese, Marco Giuseppe Ritelli, Valeria Cinquina, Silvia Clara Giliani, Mauro Magoni, Roberto Menozzi, Alessandro Pezzini · 2026
Read Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review by Lorenzo Corradi, Chiara Ferraro, Fiammetta Tesi, Giorgia Abrignani, Paola Castellini, Lilia Latte, Maria Claudia Trapasso, Antonio Genovese, Marco Giuseppe Ritelli, Valeria Cinquina, Silvia Clara Giliani, Mauro Magoni, Roberto Menozzi, Alessandro Pezzini (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-13538227.txt.
Description
Lorenzo Corradi and co-authors test whether hidden inherited tissue disorders explain some neck artery tears in this 2026 paper. Such tears are the top cause of stroke in young adults. Whether they often stem from unrecognized inherited disorders is debated.
The team read a panel of thirty-eight genes in one hundred eighty-three patients with no clear family pattern. Only two patients carried a variant known to cause the condition, about one percent. About one in seven carried a variant of uncertain meaning. A review of fourteen past studies found carrier rates from under one percent in plain series to near a quarter in family cases. The authors advise against gene testing for all such patients, urging it only where suspicion is already high.
Catalog record
| CREATOR | Lorenzo Corradi, Chiara Ferraro, Fiammetta Tesi, Giorgia Abrignani, Paola Castellini, Lilia Latte, Maria Claudia Trapasso, Antonio Genovese, Marco Giuseppe Ritelli, Valeria Cinquina, Silvia Clara Giliani, Mauro Magoni, Roberto Menozzi, Alessandro Pezzini |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 37 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |