neurodegenerative Flashcards
1
Q
Which disease to suspect in a cat with calvarial hyperostosis and seizures?
A
major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7)
2
Q
What can be found in CSF with mucopolysaccharidosis type I?
A
Large mononuclear cells with numerous 1‐3 μm round, metachromatic cytoplasmic granules (suggestive of a lysosomal storage disease)
