José Sánchez-Corona, Sergio Alberto Ramirez-Garcia, Gema Castañeda-Cisneros, Susan Andrea Gutiérrez-Rubio, Víctor Volpini, Diana M Sánchez-Garcia, José Elías García-Ortiz, Diana García-Cruz
The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky...
August 21, 2020: Genetics and Molecular Biology