Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.

Notably, all 14/14 LOTS patients described by Jahnova et al I . i as well as all 18/18 LOTS patients reported by Neudorfer et al I . i exhibit the clinical finding of cerebellar atrophy [[4], [7]]. On physical examination the patient exhibited cachexia, dysarthria, scoliosis, generalized muscular atrophy, bilateral symmetric hyperreflexia, a mild ataxic gait as well as subtle bilateral action tremor. Magnetic resonance imaging (MRI) of the brain at the age of 16 years showed moderate diffuse cerebellar atrophy without supratentorial cerebral atrophy (Fig. [Extracted from the article]