BRAIN - degenerative

Question 1

Which disease to suspect in a cat with calvarial hyperostosis and seizures?

Answer 1

major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7)

Question 2

What can be found in CSF with mucopolysaccharidosis type I?​

Answer 2

Large mononuclear cells with numerous 1‐3 μm round, metachromatic cytoplasmic granules (suggestive of a lysosomal storage disease)​

Question 3

MRI diffuse T2 hyperint in WM
WM severe multifocal reduction of myelin formation and moderate diffuse edema

Answer 3

Leukodystrophy
Standard Schnauzer
TSEN54

Question 4

morphometric factors on MRI have been found to be statistically different between Amstaffs with ceroid lipofuscinosis and normal Amstaffs?

Answer 4

Brainstem cross section area image: cerebellar cross-section area on a mid-sagittal image

Relative cerebellar size (on sagittal T2 image, cerebellar cross sectional area * 100 : brain including brainstem)

Relative CSF space ((Cerebellum + CSF)- cerebellum)*100/ cerebellum+CSF

Question 5

Which gene is associated with β-Mannosidosis in German Shepherd Dogs ? Which protein? Which histopathological findings?

Answer 5

MANBA gene

Lysosomal beta-A-mannosidase

Severe foamy vacuolation of neurons and astrocytes, with intracellular accumulation of mannose-containing oligosaccharides