Dopamine dysfunction in 22q11 deletion syndrome: possible cause of motor symptoms.

Details

Serval ID
serval:BIB_B1CA4D4B7FB9
Type
Article: article from journal or magazin.
Collection
Publications
Title
Dopamine dysfunction in 22q11 deletion syndrome: possible cause of motor symptoms.
Journal
Psychiatric genetics
Author(s)
Casarelli L., Minnei M., Pitzianti M., Armando M., Pontillo M., Vicari S., Pasini A.
ISSN
1473-5873 (Electronic)
ISSN-L
0955-8829
Publication state
Published
Issued date
10/2016
Peer-reviewed
Oui
Volume
26
Number
5
Pages
187-192
Language
english
Notes
Publication types: Journal Article ; Review ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
22q11 Deletion syndrome (22q11DS) is a neurogenetic disorder, resulting from a hemizygous microdeletion on the long arm of chromosome 22. In 22q11DS, the phenotypic expression is highly variable. Approximately one-third of all individuals with 22q11DS develop schizophrenia-like psychotic disorder. Among the genes in the deleted region, catechol-O-methyltransferase (COMT) has a particular relevance for psychiatric disorders: lower COMT enzymatic activity decreases the clearance of dopamine (DA), yielding higher levels of catecholamines in the central nervous system. Deficits in myelinogenesis and dysfunctions in the DA system could justify the white matter abnormalities in motor/premotor circuits described in 22q11DS. The alterations in DA could determine the high incidence of psychiatric disorders and the presence of neurological soft signs in 22q11DS. Neurological soft signs are defined as non-normative performance on an examination of motor and sensory tasks without focal neurological deficits. COMT haploinsufficiency, DA dysfunction, and white matter abnormalities may contribute toward the presence of neurological soft signs in 22q11DS.
Keywords
22q11 Deletion Syndrome/complications, 22q11 Deletion Syndrome/metabolism, Catechol O-Methyltransferase/genetics, Dopamine/metabolism, Haploinsufficiency, Humans, Phenotype, Psychotic Disorders/genetics, White Matter/abnormalities
Pubmed
Web of science
Create date
18/10/2024 14:03
Last modification date
02/12/2024 17:29
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