Skip Navigation


Cerebral Cortex Advance Access first published online on May 14, 2008
This version published online on May 21, 2008
Cerebral Cortex, doi:10.1093/cercor/bhn066
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
19/1/153    most recent
bhn066v2
bhn066v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Kiehl, T.R.
Right arrow Articles by Bassett, A.S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kiehl, T.R.
Right arrow Articles by Bassett, A.S.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 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

Figures have been updated.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Proc. Natl. Acad. Sci. USAHome page
D. W. Meechan, E. S. Tucker, T. M. Maynard, and A.-S. LaMantia
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
PNAS, September 22, 2009; 106(38): 16434 - 16445.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.