Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2020
Ng Joanne, Cortès-Saladelafont Elisenda, Abela Lucia, Termsarasab Pichet, Mankad Kshitij, Sudhakar Sniya, Gorman Kathleen M, Heales Simon J R, Pope Simon, Biassoni Lorenzo, Csányi Barbara, Cain John, Rakshi Karl, Coutts Helen, Jayawant Sandeep, Jefferson Rosalind, Hughes Deborah, García-Cazorla Àngels, Grozeva Detelina, Raymond F Lucy, Pérez-Dueñas Belén, De Goede Christian, Pearson Toni S, Meyer Esther, Kurian Manju A
Abstract excerpt
BACKGROUND: Juvenile forms of parkinsonism are rare conditions with onset of bradykinesia, tremor and rigidity before the age of 21 years. These atypical presentations commonly have a genetic aetiology, highlighting important insights into underlying pathophysiology. Genetic defects may affect key proteins of the endocytic pathway and clathrin-mediated endocytosis (CME), as in DNAJC6-related juvenile...
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