Article
Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2025
Galota Federica, Di Rauso Giulia, Sireci Francesca, Castellucci Andrea, Cavallieri Francesco, Monfrini Edoardo, Fioravanti Valentina, Campanini Isabella, Merlo Andrea, Napoli Manuela, Cavazzuti Lorenzo, Grisanti Sara, Ferrari Silvia, Di Fonzo Alessio, Valzania Franco
Abstract excerpt
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date...
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