Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

Isabell CordtsLuisa SemmlerJannik PrasuhnAnnette SeibtDiran HerebianTharsini NavaratnarajahJoohyun ParkNatalie DeiningerLucia LaugwitzSophia L GörickePaul LingorNorbert Brüggemann Alexander Münchau Matthis SynofzikDagmar TimmannJohannes A MayrTobias B HaackFelix DistelmaierMarcus Deschauer

Published in: Movement disorders : official journal of the Movement Disorder Society (2022)

We report bi-allelic variants in COQ4 causing an adult-onset ataxia-spasticity spectrum phenotype and a disease course much milder than previously reported. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

spinal cord injury
copy number
botulinum toxin
early onset
upper limb
cerebral palsy
gene expression
children with cerebral palsy
meta analyses