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Cerebral Cortex Advance Access published online on May 14, 2008
Cerebral Cortex, doi:10.1093/cercor/bhn066
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© The Author 2008. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Neuropathologic Features in Adults with 22q11.2 Deletion Syndrome

T.R. Kiehl1,2, E.W.C. Chow3,4, D.J. Mikulis5, S.R. George3,6 and A.S. Bassett3,4

1 Department of Pathology, University Health Network, Toronto, ON M5G 2C4, Canada, 2 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5G 2C4, Canada, 3 Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON M5G 2C4, Canada, 4 Department of Psychiatry, 5 Department of Radiology, 6 Departments of Medicine and Pharmacology, University of Toronto, Toronto, ON M5G 2C4, Canada

Address correspondence to Tim-Rasmus Kiehl, MD, Department of Pathology, University Health Network, 200 Elizabeth Street E11-444, Toronto, Ontario M5G 2C4, Canada. Email: rasmus.kiehl{at}uhn.on.ca

The 22q11.2 deletion syndrome (22qDS) is the most common microdeletion syndrome in humans. Its multisystem manifestations include congenital anomalies and neuropsychiatric disorders such as schizophrenia. Structural neuroimaging shows various abnormalities, but no postmortem brain studies exist. We report neuropathologic findings in 3 individuals from a cohort of 100 adults with a confirmed 22q11.2 deletion. All 3 had schizophrenia. Postmortem examination of Case 1, a 44-year-old male, revealed bilateral periventricular nodular heterotopia in the frontal lobes and ectopic neurons scattered throughout the frontal white matter. Cases 2 (male, aged 22 years) and 3 (female, 52 years) showed no evidence of migration abnormalities, but both had extensive astrocytic gliosis and focal collections of macrophages in the cerebral white matter, suggestive of cerebrovascular pathology. Review of magnetic resonance imaging findings available for 66 other subjects in the cohort revealed polymicrogyria in one and right cerebellar disorganization in another of the 26 subjects with schizophrenia. The results support previous neuroimaging reports suggesting that neuronal migration abnormalities may be a feature of 22qDS. Both early developmental brain abnormalities and fetal and later microvascular pathology may play a role in the pathogenesis of the neuropsychiatric phenotype of 22qDS, including white matter abnormalities and schizophrenia.

Key Words: neuronal migration • pathology • schizophrenia • velocardiofacial syndrome


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