Article
Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.
AJNR. American journal of neuroradiology - 1 Oct 2020
Biswas A, Krishnan P, Amirabadi A, Blaser S, Mercimek-Andrews S, Shroff M
Abstract excerpt
BACKGROUND AND PURPOSE: Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal cells. As a result of storage material in the brain and retina, clinical manifestations include speech delay, cognitive dysfunction, motor regression, epilepsy, vision loss, and early death. At present, 14 different ceroid lipofuscinosis...
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