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Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.

Martina FanellaMarianna FrascarelliCaterina LambiaseAlessandra MoranoMarta UnoltNatascia LiberatiJinane FattouchAntonino BuzzancaTommaso AccinniMarco CeccantiAlessandro ViganòMassimo BiondiClaudio ColonneseAnna Teresa GiallonardoFabio Di FabioAntonio PizzutiCarlo Di BonaventuraAlfredo Berardelli
Published in: Journal of medical genetics (2019)
22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients' genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.
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