Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5

Neuronal ceroid lipofuscinoses (NCLs) represent severe, commonly autosomal-recessively inherited, progressive neurodegenerative diseases mainly affecting children and young adults. 1 To date, there are at least 13 different genes, mutations of which cause various subtypes. 2 NCLs commonly show a broad phenotypic spectrum, including continuous loss of vision, various movement disorders, progressive mental deterioration, and sei-zures. We here report on a patient with adult-onset NCL type 5 with atypical parkinsonism and a pathological DaTSCAN partially responding to dopaminergic treatment.