Article
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Annals of neurology - 1 Oct 2017
Straniero Letizia, Guella Ilaria, Cilia Roberto, Parkkinen Laura, Rimoldi Valeria, Young Alexander, Asselta Rosanna, Soldà Giulia, Sossi Vesna, Stoessl A Jon, Priori Alberto, Nishioka Kenya, Hattori Nobutaka, Follett Jordan, Rajput Alex, Blau Nenad, Pezzoli Gianni, Farrer Matthew J, Goldwurm Stefano, Rajput Ali H, Duga Stefano
Abstract excerpt
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonprogressive, motor symptoms, sustained benefit from small dose of levodopa, and substantial...
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