ArticleMental illness2015
Acute Dystonia in a Patient with 22q11.2 Deletion Syndrome.
Article in Mental illness, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.American journal of medical genetics. Part A · 2019Pooled it
- Transcriptomic profiling of DYT-TOR1A patient-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23.BMC medical genomics · 2025Article
- Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.Brain sciences · 2021Article
- Insights From Genetic Studies of Cerebral Palsy.Frontiers in neurology · 2020Review
- Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.American journal of medical genetics. Part A · 2018Review
- Psychiatric Disorders Associated with 22q11.2 Deletion Syndrome.Mental illness · 2016Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dystonic symptoms.
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Registered trials
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.