ReviewMovement disorders clinical practice2026
VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.
Review in Movement disorders clinical practice, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
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.
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Who cites it
1 citing paper in PubMed.
- De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux.JCI insight · 2026Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDYT-VPS16 is a rare monogenic form of dystonia caused by pathogenic variants in the vacuolar protein sorting 16 homolog (VPS16) gene. Although increasingly recognized, the clinical spectrum and therapeutic responsiveness, particularly to deep brain stimulation (DBS), remain incompletely defined. CASES: We report six affected individuals (5 males, 1 female) from five unrelated Indian families harboring VPS16 variants. The median age at onset was 16.5 years (range, 8-18 years). Dystonia began in the cervical (n = 2), upper limb (n = 2), or laryngeal (n= 2) regions. Additional features included tremor (n = 2) and sleep disturbances (n = 1). LITERATURE REVIEW: A structured literature review identified 34 previously reported DYT-VPS16 cases treated with DBS. Pooled analysis revealed a responder rate (defined as ≥30% improvement in BFMDRS-M) of 0.57 (95% CI: 0.31-0.81; I
conclusionOur findings broaden the genotypic and phenotypic landscape of DYT-VPS16, suggesting a more motor-predominant and potentially milder expression in South Asian patients. DBS appears to confer meaningful clinical benefit in selected cases, highlighting the importance of early genetic diagnosis in guiding treatment.
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