Polymorphisms in the oxytocin receptor and their association with apathy and impaired social cognition in Huntington's disease.

Miriam Saiz-RodriguezCecilia Gil-PoloMónica Diez-FairenSaul-Indra Martinez-HortaFrederic Sampedro SantaloSara CalvoEsther Alonso-GarcíaEsther Riñones-MenaLaura AguadoNatividad MariscalIgnacio Muñoz-SiscartDolores PiñeiroJessica RivadeneyraEsther Cubo

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)

Variations in OXTR could have a relevant role in the correct development of social and cognitive functions. Future approaches will include the molecular study of p.Arg40Gly, p.Leu46Pro, and p.Thr102Asn to confirm their pathogenicity, as well as the validation of the influence of p.Val45 and p.Leu62 variants for their involvement in irritability and social cognition in HD.

Keyphrases

healthcare
mental health
mild cognitive impairment
white matter
staphylococcus aureus
dna methylation
anti inflammatory
genome wide