Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review
Nikolai Gil D Reyes1,2,3,4, Daniel G Di Luca2,5, Connie Marras2
1Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Movement Disorders Clinical Practice
|December 3, 2025
Summary
Movement disorders are increasingly recognized in 22q11.2 microdeletion syndrome. Research highlights an expanding spectrum of motor phenotypes, with gaps in understanding their causes and treatments.
Area of Science:
- Neurology
- Genetics
- Movement Disorders
Background:
- 22q11.2 microdeletion syndrome affects 1 in 2000 live births.
- Movement disorders are emerging as significant neurological manifestations.
Purpose of the Study:
- To review evidence on movement disorders in 22q11.2 microdeletion.
- Identify gaps in diagnosis, treatment, and etiopathogenesis.
- Provide research recommendations.
Main Methods:
- Comprehensive literature search (MEDLINE, Embase, CENTRAL).
- Included clinical and preclinical studies.
- Summarized data on clinical features, risk factors, and pathophysiology.
Main Results:
- 43 studies reviewed (41 clinical, 2 preclinical).
- Parkinsonism is common, but other motor phenotypes are emerging.
- Non-specific neuroimaging; promising biomarkers identified.
- Complex etiologies beyond medication side effects.
Conclusions:
- Evidence supports a broad spectrum of motor phenotypes in 22q11.2 microdeletion.
- Clinical markers and risk modifiers are emerging.
- Addressing research gaps requires improved designs, diagnostics, and collaboration.
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