ArticleMovement disorders clinical practice2026
Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review.
Article 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Adult-recognized 22q11.2 deletion syndrome in adult neurology practice: a brief report of two diagnostic pitfalls.Frontiers in neurology · 2026Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMovement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births.
objectiveWe aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 microdeletion, highlight key gaps, and provide recommendations for future research.
methodsWe conducted a comprehensive search of MEDLINE, Embase, CENTRAL, and reference lists to identify relevant clinical and preclinical studies, and summarize data on clinico-pathologic features, risk factors, and pathophysiology of movement disorders associated with molecularly defined 22q11.2 microdeletions.
resultsForty-three (clinical: n = 41/43, 95%; preclinical: n = 2/43, 5%) studies met eligibility criteria. Most clinical studies (35/41, 85%) involved adults, of which 51% (21/41) were case series/reports, and the remainder observational studies. Key findings included: (1) emphasis on parkinsonism but emerging evidence for multiple other motor phenotypes, (2) non-specific findings on routine neuroimaging, albeit with promising early results of certain modalities (eg, volumetric analyses, molecular imaging) and fluid-based biomarkers, particularly for parkinsonism, and (3) multifaceted etiologic and pathophysiologic processes beyond those attributable to medication side effects. Prevailing gaps include research design limitations, heterogeneity of diagnostic methods, and limited systematic data on etiopathogenesis and treatments.
conclusionsCurrent evidence supports an expanding spectrum of motor phenotypes associated with 22q11.2 microdeletion, with emerging data reporting potentially useful clinical markers and non-drug-related risk modifiers and underlying mechanisms. Addressing prevailing gaps will require enhanced research designs with up-to-date diagnostic and genetic methodologies, robust preclinical models, and cross-disciplinary collaborations.
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