Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Federica GalotaGiulia Di RausoFrancesca SireciAndrea CastellucciFrancesco CavallieriEdoardo MonfriniValentina FioravantiIsabella CampaniniAndrea MerloManuela NapoliLorenzo CavazzutiSara GrisantiSilvia FerrariAlessio Di FonzoFranco Valzania

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)

The present case expands the genotypic and phenotypic spectrum of AOA2, reporting a novel likely pathogenic SETX mutation (c.6208+2dupT) and highlighting an early psychiatric involvement in AOA2, suggesting the need for psychiatric assessment in these neurologic patients.

Keyphrases

obsessive compulsive disorder
end stage renal disease
mental health
ejection fraction
newly diagnosed
chronic kidney disease
deep brain stimulation
peritoneal dialysis
copy number
gene expression
adverse drug
genome wide identification
genome wide analysis