Research LetterIn-Press PreviewGeneticsNeuroscience
Open Access | 
10.1172/jci.insight.207998
De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux
Enrique Gonzalez Saez-Diez,1 Xutong Xue,1 Amy Tam,1 Hyo-Min Kim,1 Siofra Carty,1 Joshua Rong,1 Monica Ferrer-Socorro,1 Kathryn Yang,1 and Darius Ebrahimi-Fakhari1
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Gonzalez Saez-Diez, E. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Xue, X. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Tam, A. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Kim, H. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Carty, S. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Rong, J. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Ferrer-Socorro, M. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by Yang, K. in: PubMed | Google Scholar
1Movement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, United States of America
Find articles by
Ebrahimi-Fakhari, D.
in:
PubMed
|
Google Scholar
|
Published June 30, 2026 - More info
Copyright © 2026, Gonzalez Saez-Diez et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
