neuronal ceroid lipofuscinosis 11
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Pathology
- lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material
- neuronal ceroid lipofuscinoses
- retinal dystrophy
Genetics
associated with defects in GRN gene
Clinical manifestations
- rapidly progressive visual loss
- seizures
- cerebellar ataxia
- cerebellar atrophy
- cognitive decline may also occur