small animals

Question 1

5 categories of hereditary ataxia and exemple

Answer 1

1. Cerebellar cortical degeneration
2. Spinocerebellar degeneration
3. Cerebellar ataxia with limited degeneration
4. Canine multiple system degeneration
5. Episodic ataxia

Question 2

mutation associated with hereditary ataxia in Belgian Sheperd

Answer 2

• KCNJ10 : spongy degeneration with cerebellar ataxia type 1. onset 5w Potassium channel
• RALGAPA1 gene coding for SELENOP protein P (transporting selenium into CNS)
• ATP1B2: spongy degeneration with cerebellar ataxia type 2
• SLC12A6: slowly progressive spinocerebellar ataxia, paraparesis, m contraction ressembling myokymia

Question 3

mutation associated with hereditary ataxia in Old English Sheepdogs and Gordon Setter

Answer 3

RAB24 (associated with autophagy)
onset 6m-4y
cerebellar atrophy

Question 4

mutation associated with hereditary ataxia in Norwegian Buhund

Answer 4

KCNIP4 (K channel)
early onset, progressive

Question 5

mutation associated with hereditary ataxia in Coton de Tulear

Answer 5

GRM1 (metabotropic glutamate receptor 1)
onset 2w

Question 6

mutation associated with hereditary ataxia in Finnish Hound

Answer 6

SEL1L

Question 7

mutation associated with hereditary ataxia in Norwegian Elkhound

Answer 7

HACE1
Vestibulocerebellar signs, lesion in BS + cerebellum

Question 8

mutation associated with hereditary ataxia in Parson Russel Terrier

Answer 8

CAPN1
onset 7-12m
spinocerebellar ataxia
gene encode ca dependent cysteine protease calpain 1

Question 9

mutation associated with hereditary ataxia in Italian Spinone

Answer 9

ITPR1 repetitive sequence expansion
reduces protein expression in Purkinje cells
Spinocerebellar ataxia

Question 10

mutation associated with hereditary ataxia in Alpine Dachsbracke

Answer 10

SCN8A (voltage gated Na channel)
spinocerebellar ataxia

Question 11

mutation associated with hereditary ataxia in Beagle

Answer 11

SPTBN2
encode spectrin
progressive cereb ataxia

Question 12

mutation associated with hereditary ataxia in Australian working Kelpie

Answer 12

VMP1 (vacuole membrane protein)
degeneration purkinje + granule cells (cerebellar abiotrophy)

Question 13

mutation associated with hereditary ataxia in Hungarian Vizla

Answer 13

SNX14
cerebellar cortical degeneration

Question 14

mutation associated with hereditary ataxia in Novia Scotia Duck Tolling Retriever

Answer 14

SLC25A12
cerebellar degeneration + miositis

Question 15

mutation associated with Dandy Walker like malformation

Answer 15

VLDLR gene in Eurasier
hypoplasia of vermis + posterior protion of cerebellar hemispheres
non progressive ataxia

Question 16

mutation associated with hereditary ataxia in Australian Sheperd

Answer 16

PNPLA8

Question 17

mutation associated with hereditary ataxia in Lagotto Romagnolo

Answer 17

ATG4D
vacuoles within neuronal cytoplasm in PNS and CNS
cerebellar signs + alteration behaviour

Question 18

mutation associated with hereditary ataxia in Kerry Blue Terrier, chinese Crested

Answer 18

SERAC1
canine multiple system degeneration
onset 3-6m, eut 1y
depletion of neuron in cerebellum, olivary nucleus, substancia nigria, caudate nuclei

Question 19

types of neuronal ceroid lipofuscinosis + mutations

Answer 19

1: Daschund (7m), Cane Corso (same gene dif mut) PPT1
2 : Daschund (7m) TTP1
5: Border Collie, Australian cattle, Golden retriever (dif mut); (1-2y) CLN5
6: Australian Sheperd CLN6
7: Chihuahua, Chinese crested dog MFSD8
8: English Setter, Alpine Dachsbracke, saluki, german Shorthaired Pointer, Australian Sheperd (14-18m) CLN8
10: American Bulldog (1y) cathepsin D gene** CTSD**
12: tibetan Mastiff, Australian Cattle (4-6y) ATP13A2

Question 20

Lysosomal storage disease in dalmatians

Answer 20

onset 1.5y
cognitive decline, incoordination, visual impairement, incontience
intracellular inclusion with autofluorescence in cerebral cortex, cerebellum, optic nerve, cardiac muscle immunolabeling lysosomal marker protein LAMP2 and binding of ab to mitochondrial ATPase subunit c
gene CNP

Question 21

mucopolysaccharidosis associated with inadequate function pf enzyme for degradation of …

Answer 21

glycosaminoglycans

Question 22

MPS type I

Answer 22

mutation IDUA (alpha-L-iduronidase)
dysostosis multiplex, cardiac complication, corneal clouding
Plott Hound, Boston Terrier, golden Retriever

Question 23

MPS IIIA

Answer 23

mutation SGSH
Dashund (onset 3y) and New Zeland Huntaway (onset 1.5y, more severe)
spinocerebellar ataxia

Question 24

MPS IIIB

Answer 24

Schipperke
onset 3y
cerebellar signs, dystrophic cornea, retinal degeneration
deficience lysosomal glycosidase N-acetyl-alpha-D-glucosaminidase
mutation NAGLU

Question 25

MPS type VI

Answer 25

decresed activity of N-acetylgalactosamine-4-sulfatase or arylsulfatase B
Miniature Poodle, Miniature Pinscher, Miniature Schnauzer, great Dane
corneal opacities, malformed vertebral bodies, epiphyseal dysplasia, subluxation of LS/apendicular joints
onset few months

Question 26

MPS type VII

Answer 26

hydrolase beta-glucuronidase
gene GUSB4
german Shperd, Brazilian Terrier
disproportionate dwarfism, excessive joint flexibility, muscular atrophy, cloudy cornea with diffuse granularities

Question 27

mucopolysaccharidosis in American Staffordshire terrier

Answer 27

late onset (3-5y)
def arylsulfatase
ataxia, no visual imparement
cerebellar atrophy
gene ARSG

Question 28

alpha-mannosidosis

Answer 28

deficiency in alpha-mannosidase
gene MAN2B1
Doberman Pinscher (2m)
proprioceptive ataxia, immue deficiency, skeletal irregularities, hearing imparement, cognitive deficiency, strabismus

Question 29

beta-mannosidosis

Answer 29

German Sheperd
mut MANBA
def beta-mannosidase (glycoprot catabolism)
slow grow, retained decidious teeth, deafness, prorpioceptive deficit

Question 30

GM1 gangliosidosis

Answer 30

GLB1 gene
loss of activity of beta-galactosidase
onset 5m
cerebellar signs,limb weakness, dwarfism
Portugese water dog, Shiba Inu, Alaskan Husy

Question 31

GM2 gangliosidoses

Answer 31

accumulation of GM2 gnaglioside and related glycolipids, decrease beta-hexosaminidase
Type I: mut HEXA, Japanese Chin Dog (onset 2y), incrase beta-hexosaminidase
Type II (variant O): mut HEXB, Toy Poodle, Shiba Inu (onset 1y), decrease beta-hexosaminidase
cerebellar ataxia, visual impairement, alteration mental state
MRI: diffuse brain atrophy

Question 32

glycogen storage disease type II

Answer 32

Finnish ans Swedish Lapphunds
mut GAA (def acid alpha-glucosidase
muscle weakness, vomiting, diffic breathing, altered vocalisation, diff swallowing
mycardial hypertrophy; oesophagal dilat
onset 6m

Question 33

Alpha fucosidosis

Answer 33

deficiency of alpha-L-fucosidase, mut FUCAI1
English Springer Spaniel
onset 6m
behavioural changes, ataxia, impaired proprioception, diff swallowing/vocalisation, m atrophy, visual impairmeent

Question 34

Krabbe disease

Answer 34

def galactocerebrosidase activity
onset 4-6w
tremors and weakness of PL, ataxia to paralysis by3-5m
Cairn Terrier, WESTIE, Irish Setter
mut GALC

Question 35

neuro-axonal dystrophy

Answer 35

**axonal swelling (spheroids) and axonal atrophy
akinesia, scoliosis, arthrogryphosis, cerebellar hypoplasia, pulmonary hypoplasia, thining of patellar tendon, spinal cord hypoplasia, respiratory failure

Papillon : PLA2G6
Rottweiler : VPS11
Spanish Water Dog: **TECPR2 **(juvenile onset)
MFN2 fetal onset