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neuronal ceroid lipofuscinosis 11
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
Laboratory:
- GRN gene mutation
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM 614706
References
- UniProt :accession P28799
- OMIM :accession 614706