Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in the HEXA gene. The aim of our work was to identify the characteristic brain MRI findings in this presumably underdiagnosed disease.Clinical data and MRI findings from 16 patients (10F/6 M) with LOTS...