The baseline brain magnetic resonance imaging (MRI) of patient 1 showed mild cerebral and cerebellar atrophy with concomitant ex vacuo dilatation of the ventricle system (Fig. 3), and T2 hyperintense signal abnormalities of the periventricular white matter, consistent with CLN2 disease [6, 17, 18]. The gene discussed is TPP1; the disease is Cerebellar atrophy.