Neurological manifestation of 22q11.2 deletion syndrome

Michael Bayat*, Allan Bayat

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

22q11.2 deletion syndrome is the most common microdeletion syndrome. This article reviews the different neurological manifestations of 22q11.2 deletion syndrome. The syndrome is associated with neurological disorders such as epilepsy and movement disorders. Patients with 22q11.2 DS have an increased incidence of provoked and unprovoked seizures. Provoked seizures include, amongst others, seizures due to hypocalcemia, surgery, perioperative hypoxia, antipsychotic medication, and fever. Both focal seizures, myoclonus and generalized tonic–clonic seizures occur in 22q11.2 DS. Generalized epilepsy occurs more often than in the background population. Furthermore, 22q11.2 DS is associated with a significantly increased risk of developing Parkinson’s disease, and an increased incidence of dystonia has also been suggested. Abnormal neuroradiological findings — amongst them polymicrogyria — are common in 22q11.2.2 DS and reviewed in the article. The risk of psychiatric disorders, in particular schizophrenia, is increased in 22q11.2 DS.

Original languageEnglish
JournalNeurological Sciences
Volume43
Pages (from-to)1695-1700
ISSN1590-1874
DOIs
Publication statusPublished - Mar 2022

Bibliographical note

Publisher Copyright:
© 2021, Fondazione Società Italiana di Neurologia.

Keywords

  • 22q11.2 deletion syndrome
  • DiGeorge syndrome
  • Epilepsy
  • Movement disorders
  • Parkinson’s disease
  • Chromosome Deletion
  • Antipsychotic Agents
  • Seizures/epidemiology
  • DiGeorge Syndrome/complications
  • Epilepsy/genetics
  • Humans
  • Schizophrenia

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