Cortical myoclonus as a common and clinically actionable movement disorder phenotype of 22q11.2 deletion syndrome.
Cortical myoclonus as a common and clinically actionable movement disorder phenotype of 22q11.2 deletion syndrome.
Where did the research take place?
The study site has not been established. Author addresses may differ from where the research occurred.
Toronto, CA · Author affiliation
Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; Edmond J. Safra Program in Parkinson's Disease, the Rossy Progressive Supranuclear Palsy Centre, and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada; Dalglish Family 22q Clinic, Toronto General Hospital, Toronto, Ontario, Canada; Clinical Genetics Research Program, Centre for Addiction & Mental Health, Toronto, Ontario, Canada.Location evidence
Amersfoort, NL · Author affiliation
Dalglish Family 22q Clinic, Toronto General Hospital, Toronto, Ontario, Canada; Advisium, 's Heeren Loo Zorggroep, Amersfoort, the Netherlands; Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.Location evidence
Maastricht, NL · Author affiliation
Dalglish Family 22q Clinic, Toronto General Hospital, Toronto, Ontario, Canada; Advisium, 's Heeren Loo Zorggroep, Amersfoort, the Netherlands; Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.Location evidence
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Original abstract
BACKGROUND: Although myoclonus is known to be linked to genetic etiologies, its characterization in conditions associated with pathogenic copy number variation (CNV) remains limited. OBJECTIVE: This study systematically characterized myoclonus in 22q11.2 microdeletion, the most common pathogenic CNV in humans. METHODS: We identified individuals with neurophysiologically confirmed myoclonus from a large cohort of adults with 22q11.2 deletion syndrome (22q11.2DS) assessed between January 1996 and December 2025. We estimated prevalence, and analyzed clinical and neurophysiological features. RESULTS: Among 295 neurologically assessed patients, 16 of the 42 unrelated individuals with clinically suspected myoclonus had neurophysiological data available for characterization. All 16 met predefined criteria for highly probable cortical myoclonus (minimum observed prevalence: 5.4%; 95% CI 3.4 - 8.6%), with eight meeting criteria for definite cortical myoclonus (minimum observed prevalence: 2.7%, 95% CI 1.4 - 5.3%). In 9 of the 12 patients with available follow-up clinical data, neurophysiological evaluation has led to changes in management. CONCLUSIONS: The findings support cortical myoclonus as a relatively common and clinically actionable movement disorder in 22q11.2DS. As for Parkinson's disease, the results provide preliminary evidence supporting the chromosome 22q11.2 microdeletion as a potential risk-conferring CNV for cortical myoclonus, adding to the genetic heterogeneity associated with this movement disorder.