Ontology highlight
ABSTRACT:
SUBMITTER: Sanders DN
PROVIDER: S-EPMC2930207 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Sanders Douglas N DN Farias Fabiana H FH Johnson Gary S GS Chiang Vivian V Cook James R JR O'Brien Dennis P DP Hofmann Sandra L SL Lu Jui-Yun JY Katz Martin L ML
Molecular genetics and metabolism 20100424 4
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by progressive neurodegeneration and accumulation of autofluorescent storage granules. A 9-month-old Miniature Dachshund presented with NCL-like signs that included disorientation, ataxia, weakness, visual impairment, and behavioral changes. Neurons throughout the CNS contained autofluorescent lysosomal inclusions with granular osmiophilic deposit (GROD) ultrastructure characteristic of classical infantile NCL ...[more]