Evidence map›Paper›PMID 42378062›Full record

ArticleJCI insight2026

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

Enrique Gonzalez Saez-Diez, Xutong Xue, Amy Tam, Hyo-Min Kim, Siofra Carty, Joshua Rong, Monica Ferrer-Socorro, Kathryn Yang, Darius Ebrahimi-Fakhari

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JCI insight, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. AAutophagy reports · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Enrique Gonzalez Saez-DiezMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Xutong XueMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Amy TamMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hyo-Min KimMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Siofra CartyMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Joshua RongMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Monica Ferrer-SocorroMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Kathryn YangMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Darius Ebrahimi-FakhariMovement Disorders Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Funding

Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - RDCRCU54NS148312 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Darius Ebrahimi-Fakhari · 2025 to 2026
$5.0M
Development of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic ParaplegiaK08NS123552 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI EBRAHIMI-FAKHARI, DARIUS · 2021 to 2025
$1.1M
NINDS NIH HHS K08 NS123552NINDS NIH HHS U54 NS148312
6 · The paper itself

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.

Indexed as

AutophagyDystonic DisordersMutation, MissenseVesicular Transport ProteinsDeep Brain StimulationHumansInfantVesicular Transport ProteinsVPS16 protein, humanAutophagyGeneticsMovement disordersNeurodevelopmentNeuroscience

Identifiers

PMID42378062
PMCPMC13505382

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.