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

Livia Casarelli, Maurizio Minnei, Mariabernarda Pitzianti, Marco Armando, Maria Pontillo, Stefano Vicari, Augusto Pasini

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)187-192
Number of pages6
JournalPsychiatric Genetics
Volume26
Issue number5
DOIs
Publication statusPublished - 2016

Keywords

  • 22q11DS
  • DiGeorge syndrome
  • neurological soft signs

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry

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