BRAIN - degenerative Flashcards
Which disease to suspect in a cat with calvarial hyperostosis and seizures?
major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7)
What can be found in CSF with mucopolysaccharidosis type I?
Large mononuclear cells with numerous 1‐3 μm round, metachromatic cytoplasmic granules (suggestive of a lysosomal storage disease)
MRI diffuse T2 hyperint in WM
WM severe multifocal reduction of myelin formation and moderate diffuse edema
Leukodystrophy
Standard Schnauzer
TSEN54
morphometric factors on MRI have been found to be statistically different between Amstaffs with ceroid lipofuscinosis and normal Amstaffs?
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
Which gene is associated with β-Mannosidosis in German Shepherd Dogs ? Which protein? Which histopathological findings?
MANBA gene
Lysosomal beta-A-mannosidase
Severe foamy vacuolation of neurons and astrocytes, with intracellular accumulation of mannose-containing oligosaccharides
KNCJ10 mutation in Bouvier des Ardennes has variable clinical severity? Which BAER waves are abnormal ? What is the life threatening condition?
True: clinical signs started at 6 weeks of age in 1 puppy with severe signs of cerebellar disease, and at 7 to 10 weeks of age in the 4 remaining puppies with milder signs of spinocerebellar disease.
BAER: loss of waves III/IV and V
Life threatening condition: rigidity and tremors in lateral recumbency causing severe hyperthermia
In hereditary ataxia of JRT and smooth haired fox terriers, give: affected tracts and brainstem nuclei,gene, protein.
Spinocerebellar tract (mostly thoracolumbar), lateral lemniscus and trapezoid body
KCNJ10
Voltage-gated K+ channels, subfamily J, member 10
What are the BAER findings associated with ARSG mutation?
Decreased amplitudes of waves I and II
Increased inter-wave latency for waves III to V
sulfatase deficiency, associated with neuronal ceroid lipofuscinosis
American Staffordshire Terrier
Which lysosomal storage diseases are associated with storage product accumulation in urine?
Mannosidosis
Mucopolisaccharidoses
Fuccosidosis
In Staffordshire bull terriers with L-2-Hydroxyglutaric aciduria, what 2 are the most prominent clinical signs, present in almost all cases?
Muscle stiffness/ cramps and behavioral changes
Give the mutations associated with neuronal ceroid lipofuscinosis in Dachshund.
PPT1 (CLN1)
TPP1 (CLN2)
Both are early-onset (8-10 months)
What is the only hypokinetic disorders in small animals?
Canine multiple system degeneration
Kerry blue terriers and Chinese crested dogs
SERAC1
Give a specific cerebellar disease in Border Terrier puppies. Which gene? Which clinical features?
Spongiform leucoencephalomyelopathy
SLEM
Phenotype: shaking puppy with cerebellar ataxia and severe generalized coarse body tremors.
Slow but progressive improvement over several months.
BAER: normal wave I, reduced amplitude of wave II and absence of waves III–VII.
MRI: bilateral and symmetrical T2 hyperintensities affecting the brainstem and cerebellar white matter.
Histology: spongiform change affecting the white matter of the cerebellum, brainstem and spinal cord with decreased myelin content.
What are the mutations described for cerebellar abiotrophy in dogs? In which breeds?
SPTBN2 (Beagle)
RAB24 (Gordon Setter, Old English Sheepdog)
SEL1L (Finnish Hound)
SNX14 (Hungarian Vizsla)
VMP1 (Australian Working Kelpie)
Scottish Terrier: CFAX -> very slow & polyglucosan body accumulation in molecular layer
Australian Kelpie: CFA20, CFA3
= cerebellar cortical degeneration (Purkinje vs. granuloprival)
What is MRI cut-off ratio for cerebellar atrophy in abiotrophic dogs?
Ratio brainstem area/cerebellum area > 89%
Control: 72%
Atrophy: 106%
