Article
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Parkinsonism & related disorders - 1 Jan 2022
Skorvanek Matej, Rektorova Irena, Mandemakers Wim, Wagner Matias, Steinfeld Robert, Orec Laura, Han Vladimir, Pavelekova Petra, Lackova Alexandra, Kulcsarova Kristina, Ostrozovicova Miriam, Gdovinova Zuzana, Plecko Barbara, Brunet Theresa, Berutti Riccardo, Kuipers Demy J S, Boumeester Valerie, Havrankova Petra, Tijssen M A J, Kaiyrzhanov Rauan, Rizig Mie, Houlden Henry, Winkelmann Juliane, Bonifati Vincenzo, Zech Michael, Jech Robert
Abstract excerpt
INTRODUCTION: Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset mitochondrial disease, have been reported to date. Here we present six novel cases with WARS2-related diseases and expand the spectrum to later onset phenotypes including dopa-responsive early-onset parkinsonism and progressive...
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