Neuroimaging Correlates of 22q11.2 Deletion Syndrome: Implications for Schizophrenia Research

Author(s): E. Boot, T.A.M.J. van Amelsvoort.

Journal Name: Current Topics in Medicinal Chemistry

Volume 12 , Issue 21 , 2012

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Abstract:

22q11.2 Deletion syndrome (22q11DS) is the most common known recurrent copy-number variant disorder. It is also the most common known genetic risk factor for schizophrenia. The greater homogeneity of subjects with schizophrenia in 22q11DS compared with schizophrenia in the wider non-deleted population may help to identify much needed information on neuroanatomical substrates, and neurochemical and neurofunctional mechanisms that may modulate the risk for schizophrenia. Identification of the underlying pathophysiology creates opportunities for developing genotypespecific, biology-based and targeted treatments to prevent, delay or minimize the severity of schizophrenia in both 22q11DS and the wider non-deleted population. This article reviews neuroimaging studies that focused on brain structure and function in this high-risk population, with particular attention to schizophrenia research. We also discuss the evidence on the role of candidate genes within the 22q11.2 region, with particular reference to catechol-O-methyl transferase (COMT) and proline dehydrogenase (PRODH).

Keywords: 22q11.2 Deletion syndrome, velocardiofacial syndrome, schizophrenia, psychosis, neuroimaging.

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Article Details

VOLUME: 12
ISSUE: 21
Year: 2012
Page: [2303 - 2313]
Pages: 11
DOI: 10.2174/1568026611212210003
Price: $58

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