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Neuronal Ceroid- Lipofuscinosis in Two Cats

Neuronal Ceroid- Lipofuscinosis in Two Cats. M ARK C HALKLEY – 3 rd Y EAR A NATOMIC P ATHOLOGY R ESIDENT. History & Signalment. Similar history and signalment for both case #1 and #2: - Both between 1 or 2-years old male DSH cats

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Neuronal Ceroid- Lipofuscinosis in Two Cats

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  1. Neuronal Ceroid- Lipofuscinosis in Two Cats MARK CHALKLEY – 3rdYEAR ANATOMIC PATHOLOGY RESIDENT

  2. History & Signalment • Similar history and signalment for both case #1and #2: - Both between 1 or 2-years old male DSH cats - Submitted to animal shelters as strays with no previous history - Prolonged, progressive history of visual dysfunction (running into walls, difficulty tracking moving objects) and neurological deficits (falling, frantic running, behavior abnormalities) • Both euthanized and submitted for necropsy

  3. Case #1 Control

  4. Cerebral Cortex

  5. Normal Normal Case #2

  6. H & E H & E

  7. LFB/ H&E H & E AF PAS

  8. Immunofluorescence • Normal and abnormal

  9. GFAP H & E

  10. Normal Case #2

  11. Lesion Distribution * + = mild, ++ = moderate, +++ = severe; 1 = Case No. 1; 2 = Case No. 2

  12. Ceroid-lipofuscinosis Gangliosidoses Sphingolipidoses & Mucopolysaccharidoses Mannosidoses

  13. Diagnosis Brain, spinal cord, eyes: Degenerative lysosomal storage encephalo-myelopathy and retinopathy, widespread, marked, chronic, with neuronal loss and astrogliosis - Consistent with neuronal ceroid-lipofuscinosis (NCL)

  14. Lysosomal Storage Diseases (LSD) What is LSD anyway? • LySergic acid Diethylamide • Lumpy Skin Disease • Lichenoid-pSoriasiform Dermatoses • Louisiana School for the Deaf

  15. NCL in Animals and Humans • Four main variants – infantile, late-infantile, juvenile, adult • 160 mutations in 10 human genes (CLN1-10) • Lead to defects in 8 known proteins • Gene defects also recognized in dogs, sheep and cattle • Similar distribution and character of lesions & material • Main storage material in animals and humans - subunit c of mitochondrial ATP synthase (SCMAS) or sphingolipid activator proteins A and D (SAPs) • A correlation between the age of clinical onset of disease, ultrastructure of the storage material and the variants of NCL has not been established in animals

  16. Lipofuscin vs Ceroid *Table adapted from SS Seehafer, DA Pearce, Neurology of Aging 27 (2006), p580.

  17. Mechanisms of Ceroid Accumulation Oxidation Lysosomal Function Autophagy Seehafer S & Pearce D (2007)

  18. Acknowledgements • ACVP/STP coalition fellowship • Pfizer & Dr Peter Schmidt • University of Minnesota – - Dr Anibal Armien & Dr Gerry O’Sullivan - Electron microscopy laboratory

  19. Questions?

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