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Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome.

Andrea Eugenio CavannaGiulia PainiGiulia PurpuraAnna RivaRenata NacinovichStefano Seri
Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
Neurodevelopmental tics in the context of Klinefelter syndrome have been previously documented in three cases only. Gilles de la Tourette syndrome is 3-4 times more common in males than females and its etiological factors include multiple genetic components (genetic heterogeneity). Our case report widens the spectrum of neurodevelopmental disorders observed in the context of Klinefelter syndrome and contributes to genetic research on the role of the X chromosome in the pathophysiology of tic disorders.
Keyphrases
  • case report
  • copy number
  • genome wide
  • gene expression
  • deep brain stimulation