Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10
Clément Desjardins, Jiyoon Baik, Lorenzo Bresciani, Christelle Nilles, Cendrine Foucard, Mathieu Georget, Lina Daghsen, Bertrand Degos, Aurélie Méneret, Emmanuel Roze · 2026
Read Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10 by Clément Desjardins, Jiyoon Baik, Lorenzo Bresciani, Christelle Nilles, Cendrine Foucard, Mathieu Georget, Lina Daghsen, Bertrand Degos, Aurélie Méneret, Emmanuel Roze (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-13508837.txt.
Description
Clément Desjardins and co-authors report a patient whose movement disorder traces to two faulty copies of one gene. The gene, KCNJ10, builds a potassium channel in the brain. Broken versions are known for a syndrome mixing unsteady gait with deafness, seizures, and kidney trouble, but the full range of movement problems is poorly mapped. Their 2026 report adds a striking case.
The patient, a 33-year-old woman, has paroxysmal kinesigenic dyskinesia: brief twisting or jerking attacks set off by sudden movement. She also shows a worsening mix of poor coordination and stiffness, plus dystonic postures. Her parents, each carrying one copy, are healthy. The authors place her case against earlier reports, including siblings whose attacks were noticed only in hindsight. The report sharpens the picture of what this channel gene can do when both copies fail.
Catalog record
| CREATOR | Clément Desjardins, Jiyoon Baik, Lorenzo Bresciani, Christelle Nilles, Cendrine Foucard, Mathieu Georget, Lina Daghsen, Bertrand Degos, Aurélie Méneret, Emmanuel Roze |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |