SynthesisEuropean psychiatry : the journal of the Association of European Psychiatrists2025
Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.
Synthesis in European psychiatry : the journal of the Association of European Psychiatrists, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07315386 (Catatonic Syndrome in Adult Patients at Basurto Hospital), which is not on this map. Cited by 4 papers.
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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.
Catatonic Syndrome in Adult Patients at Basurto Hospital: A Descriptive Study of Incidence, Comorbidity, and Short-Term Outcomes
Who cites it
4 citing papers in PubMed.
- Narrative Review of Catatonia in Psychosis and Eating Disorders: Common Intersections and Treatment Considerations.Early intervention in psychiatry · 2026Review
- Catatonia associated with mosaic 18q deletion syndrome: a case report.BMC psychiatry · 2026Article
- Catatonia in Systemic Lupus Erythematosus.NeuroSci · 2025Review
- Treatment-refractory catatonia in an adolescent with aFrontiers in psychiatry · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurodevelopmental conditions are crucial risk factors for catatonia in pediatric and adult populations. Recent case reports and studies have identified an increasing number of genetic abnormalities likely contributing to catatonia. Catatonia associated with genetic abnormalities is challenging in terms of identification, chronicity, and resistance to treatment. In addition, understanding these genetic abnormalities through identifying rare single nucleotide and copy number variants may offer valuable insights into the underlying pathophysiology.
methodsWe conducted a systematic review of all genetic abnormalities reported with catatonia and performed a gene-set enrichment analysis. Our systematic literature search for relevant articles published through July 15, 2024, using combinations of "catatonia," "catatonic syndrome," "genetic," and "genes" in PubMed, yielded 317 articles. Of these, 94 were included, covering 374 cases of catatonia and 78 distinct genetic abnormalities.
resultsThis review discusses the clinical presentation of catatonia for each genetic disorder, the treatment strategies, and the putative underlying mechanisms.
conclusionsThe review highlights that catatonia underpinned by genetic abnormalities presents specific clinical and treatment-response features. Therefore, we propose genetic testing guidelines for catatonia and advocate for systematically investigating catatonia in several genetic diseases. Regarding the pathophysiology of catatonia, the gene ontology of biological processes reveals significant enrichment of variants in synaptic and post-synaptic regulatory genes, particularly within GABAergic neurons, reinforcing the implication of the excitatory/inhibitory imbalance. Finally, genetic variants are enriched in microglial cells, highlighting the role of brain inflammation in triggering catatonia. This comprehensive insight could pave the way for more effective management strategies for this condition.
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