Skip to content
DraconiticResearch
Search Sources API
201,818 studies31 sourcesUpdated 32 min ago
Peer-reviewedCC BY 4.0Movement Disorders Clinical Practice

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
Open at sourcePDFDOICite

Abstract

Biallelic KCNJ10 variants, encoding the Kir4.1 potassium channel, can cause cerebellar ataxia variably associated with intellectual disability, renal tubulopathy, sensorineural hearing loss and epilepsy (EAST or SeSAME syndrome, MIM:612780). 1,2 The predominant movement disorder, cerebellar ataxia, is typically non-progressive, though dystonic posturing occurs. 3 Genotype-phenotype correlations are poorly known. 1,3 Both monoallelic and biallelic KCNJ10 variants can cause paroxysmal kinesigenic dyskinesia (PKD), defined by brief dystonic or choreic attacks triggered by sudden movements, as a predominant manifestation. 4-6 Notably, paroxysmal features resembling PKD were retrospectively identified in one of three previously reported siblings carrying the homozygous p.(Ile60Thr) variant. 6,7 We report a patient with biallelic KCNJ10 variant presenting with PKD and progressive ataxia-spasticity.

Case ReportA 33-year-old woman presented with PKD, progressive ataxiaspasticity syndrome, and dystonic postures. She had asymptomatic parents with no family history for neurological disorders (Supplementary Fig. S1).

Generalized tonic-clonic seizures at 10 months, treated with valproate, remitted after discontinuation at age 2 without recurrence. She exhibited developmental delay with independent ambulation at 30 months, and persistent coordination difficulties. At age 8, PKD episodes appeared, preceded by a sensory aura, with dystonic posturing of the upper limbs and neck, lasting 5-60 seconds, about three times daily. Episodes were typically

Related

  1. Re-Analysis on GRCh38 with the MANE Select Transcript Resolves Previously Undetected Biallelic ODAD4 Variants in Primary Ciliary Dyskinesia
    Petra Pennekamp, Marina Praprotnik, Bernd Dworniczak +2
    CellsPeer-reviewedCC BY 4.0Full textGenetics & genomicsCrossrefEurope PMC
  2. Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity
    Farzad Ahmadabadi, Marzieh Babaee, Narjes Jafari +3
    Clinical case reportsPeer-reviewedCC BYFull textNeuroscienceEurope PMCEurope PMCPMC
  3. Dyskinesia induced by a dopamine 2 receptor-like agonist, but not a dopamine 1 receptor-like agonist, is blocked by sub-anesthetic ketamine
    R. Parmar, J. R. Meredith, M. J. Bartlett +6
    bioRxivPreprintAll rights reservedFull textNeurosciencebioRxiv
  4. Concurrent Loss of PIGA and ZRSR2 in a Patient With Paroxysmal Nocturnal Hemoglobinuria and Myelodysplastic Neoplasm
    Fatma AlBulushi, Eric McGinnis
    International Journal of Laboratory HematologyPeer-reviewedCC BY 4.0Full textImmunologyPMC
  5. Universal donor plasmids for biallelic degron-tagging in mammalian cells and organoids
    S. O. Pohl, B. A. Hernandez-Moran, C. Guzman Cardoso +5
    bioRxivPreprintCC BY-NCFull textSystems & synthetic biologybioRxiv

Cite

BibTeXRIS
BibTeX
@article{desjardins2026paroxysmal,
  title = {{Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10}},
  author = {Clément Desjardins and Jiyoon Baik and Lorenzo Bresciani and Christelle Nilles and Cendrine Foucard and Mathieu Georget and Lina Daghsen and Bertrand Degos and Aurélie Méneret and Emmanuel Roze},
  journal = {Movement Disorders Clinical Practice},
  year = {2026},
  month = aug,
  doi = {10.1002/mdc3.70801},
  url = {https://hal.sorbonne-universite.fr/hal-05737286v1},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10
AU  - Clément Desjardins
AU  - Jiyoon Baik
AU  - Lorenzo Bresciani
AU  - Christelle Nilles
AU  - Cendrine Foucard
AU  - Mathieu Georget
AU  - Lina Daghsen
AU  - Bertrand Degos
AU  - Aurélie Méneret
AU  - Emmanuel Roze
PY  - 2026
DA  - 2026/08/26
JO  - Movement Disorders Clinical Practice
DO  - 10.1002/mdc3.70801
UR  - https://hal.sorbonne-universite.fr/hal-05737286v1
AB  - Biallelic KCNJ10 variants, encoding the Kir4.1 potassium channel, can cause cerebellar ataxia variably associated with intellectual disability, renal tubulopathy, sensorineural hearing loss and epilepsy (EAST or SeSAME syndrome, MIM:612780). 1,2 The predominant movement disorder, cerebellar ataxia, is typically non-progressive, though dystonic posturing occurs. 3 Genotype-phenotype correlations are poorly known. 1,3 Both monoallelic and biallelic KCNJ10 variants can cause paroxysmal kinesigenic dyskinesia (PKD), defined by brief dystonic or choreic attacks triggered by sudden movements, as a predominant manifestation. 4-6 Notably, paroxysmal features resembling PKD were retrospectively identified in one of three previously reported siblings carrying the homozygous p.(Ile60Thr) variant. 6,7 We report a patient with biallelic KCNJ10 variant presenting with PKD and progressive ataxia-spasticity.  Case ReportA 33-year-old woman presented with PKD, progressive ataxiaspasticity syndrome, and dystonic postures. She had asymptomatic parents with no family history for neurological disorders (Supplementary Fig. S1).  Generalized tonic-clonic seizures at 10 months, treated with valproate, remitted after discontinuation at age 2 without recurrence. She exhibited developmental delay with independent ambulation at 30 months, and persistent coordination difficulties. At age 8, PKD episodes appeared, preceded by a sensory aura, with dystonic posturing of the upper limbs and neck, lasting 5-60 seconds, about three times daily. Episodes were typically
SN  - 2330-1619
ER  -