Belén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, Juan D Ortigoza-Escobar, Alfons Macaya, Federica R Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C Dale, Roser Pons, Kathryn J Peall, Vincenzo Leuzzi, Manju A Kurian
BACKGROUND AND OBJECTIVE: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. METHODS: Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria...
November 2022: Movement Disorders: Official Journal of the Movement Disorder Society