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Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP).

Renana MertinCid DiestaNorbert BrüggemannRaymond L RosalesHenrike HanssenAna WestenbergerJulia SteinhardtMarcus HeldmannHans T S ManaloJean Q OropillaChristine KleinChristoph HelmchenAndreas Sprenger
Published in: Journal of neurology (2023)
Despite being asymptomatic, NMC already showed some oculomotor deficits reflecting fronto-striatal impairments, typically found in XDP patients. However, NMC did not show saccade hypometria and impaired smooth pursuit as seen in advanced Parkinson's disease and XDP, suggesting oculomotor state rather than trait signs in these mutation carriers. Neurodegeneration may commence in the striatum and prefrontal cortex, specifically the dorsolateral prefrontal cortex.
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