De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux

JCI Insight 2026 Open access

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Authors: Enrique Gonzalez Saez‐Diez, Xutong Xue, Amy Tam, Hyo‐Min Kim, Siofra Carty, Joshua Rong, Monica Ferrer‐Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari
DOI: 10.1172/jci.insight.207998
Cited by: 1
References: 7

Abstract

A VPS16 gene variant causes movement disorder in an infant by blocking cellular waste clearance - confirmed in patient cells and potentially treatable with deep brain stimulation.

Fields of Study & Subjects

Hereditary Neurological Disorders Neurological disorders and treatments Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
JCI Insight
Publisher
American Society for Clinical Investigation
Volume
11
Issue
16
Publication date
30 June 2026
Language
EN