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inherited disorders > small animals > Flashcards

small animals Flashcards

1
Q

5 categories of hereditary ataxia and exemple

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

mutation associated with hereditary ataxia in Belgian Sheperd

A
  • 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
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3
Q

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

A

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

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4
Q

mutation associated with hereditary ataxia in Norwegian Buhund

A

KCNIP4 (K channel)
early onset, progressive

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5
Q

mutation associated with hereditary ataxia in Coton de Tulear

A

GRM1 (metabotropic glutamate receptor 1)
onset 2w

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6
Q

mutation associated with hereditary ataxia in Finnish Hound

A

SEL1L

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7
Q

mutation associated with hereditary ataxia in Norwegian Elkhound

A

HACE1
Vestibulocerebellar signs, lesion in BS + cerebellum

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8
Q

mutation associated with hereditary ataxia in Parson Russel Terrier

A

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

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9
Q

mutation associated with hereditary ataxia in Italian Spinone

A

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

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10
Q

mutation associated with hereditary ataxia in Alpine Dachsbracke

A

SCN8A (voltage gated Na channel)
spinocerebellar ataxia

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11
Q

mutation associated with hereditary ataxia in Beagle

A

SPTBN2
encode spectrin
progressive cereb ataxia

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12
Q

mutation associated with hereditary ataxia in Australian working Kelpie

A

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

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13
Q

mutation associated with hereditary ataxia in Hungarian Vizla

A

SNX14
cerebellar cortical degeneration

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14
Q

mutation associated with hereditary ataxia in Novia Scotia Duck Tolling Retriever

A

SLC25A12
cerebellar degeneration + miositis

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15
Q

mutation associated with Dandy Walker like malformation

A

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

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16
Q

mutation associated with hereditary ataxia in Australian Sheperd

A

PNPLA8

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17
Q

mutation associated with hereditary ataxia in Lagotto Romagnolo

A

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

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18
Q

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

A

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

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19
Q

types of neuronal ceroid lipofuscinosis + mutations

A

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

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20
Q

Lysosomal storage disease in dalmatians

A

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

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21
Q

mucopolysaccharidosis associated with inadequate function pf enzyme for degradation of …

A

glycosaminoglycans

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22
Q

MPS type I

A

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

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23
Q

MPS IIIA

A

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

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24
Q

MPS IIIB

A

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

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25
Q

MPS type VI

A

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

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26
Q

MPS type VII

A

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

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27
Q

mucopolysaccharidosis in American Staffordshire terrier

A

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

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28
Q

alpha-mannosidosis

A

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

29
Q

beta-mannosidosis

A

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

30
Q

GM1 gangliosidosis

A

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

31
Q

GM2 gangliosidoses

A

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

32
Q

glycogen storage disease type II

A

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

33
Q

Alpha fucosidosis

A

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

34
Q

Krabbe disease

A

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

35
Q

neuro-axonal dystrophy

A

**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

36
Q

mutation associated with sensory neuropathy in mixed breed dog

A

SCN9A
absence of superficial and deep pain perception of the entire body

37
Q

sensory ataxic neuropathy : breed and mutation

A

Golden Retriever
begin during puppyhood, progressive
male and female equally affected
ataxia, def in postural reaction, dimin spinal reflex
mut MT-TY (mitochondrially encoded tRNA tyrosine

38
Q

sensory polyneuropathy in Border Collie

A

mut FAM134B (RETREG1) coding for reticulophary regulator 1
progressive proprioceptive ataxia, generalised m atrophy, knuckling, self mutilating wounds

39
Q

acral mutilation syndrome

A

begin in young puppies
insensitivity to pain in extremities, licking/self mutilation to the feet
normal proprioception, motricity, spinal reflex

40
Q

polyneuropathy in Leonberg

A

1/ ARHGEF10 : st bernard and leonberg, juvenile onset, progressive, mixed. laryngeal paral
2/ GJA9
3/ CNTNAP1 : Leonberg, St Bernard, Labrador

41
Q

polyneuropathy in Miniatude Schnauzer

A

SBF2
demyelinating motor and sensory neuropathy

42
Q

mutation associated with polyneuropathy in Greyhound, Alaskan Malamutes

A

NDGR1

43
Q

pathology associated with RAB3GAP1 mutation

A

1/ polyneuropathy with ocular abnomalities and neuronal vacuolation in Black russian terrier and Alaskan Huskies
2/ neuronal vacuolation and spinocerebellar degeneration in rottweiler

44
Q

mutation associated with myasthenia gravis

A

1/ CHRNE in Jack Russel (7w) and Heideterrier (lack reflex and coordination of front limbs)
2/ CHAT (choline acetyltransferase) in Old Danish Pointer dog

45
Q

mutation/breed epilepsy with photosensitivity

A

Rhodesian Ridgaback
onset 6m
myoclonic twitches when dogs were lying down, in a state of relaxation, drowsinsess or during initial phase of sleep
progression to generalised seizures in 38% within 6m
visual stimulus-induced seizures in 35%
DIRAS1 (deletion)

46
Q

mutation associated with beign familial epilspy

A

Lagotto Romagnolo
onset 5-9w, spontaneous remission 13w
generalised tremors, lack of coordination and stiffness during seizures
+/- unsteady gait excessive muscle activity between seizures
mutation LGI2 (prevent secretion and action on neuronal ADAM recep)

47
Q

Lafora disease: breeds and mutation

A

Miniature wirehaired Daschund, Newfoundland, Chihuahua, Pembroke Welsh Corgi
mutation NHLRC1 (EPM2B)
polyglucosan bodies in perikarion/dendrites of neurons in CNS
myoclonic epilepsy, late onset (8y), generalised tonico-clonic seizures

48
Q

mut associated with epilepsy in Parson Russel Terrier

A

epil with mitochondrial dysfunction and neurodegeneration
onset 6-12w seizures evoluing in status
acute neuronal degeneration and necrosis in brain GM with accumulation of amyloid beta and intraneuronal crowding of mitochondria
mut PITRM1

49
Q

mut assocaited with deafness

A

Australian Stumpy Cattle dog: KLF7
Beuaceron: CDH23
Rhodesian Ridgebacks (onset 1-2y): EPS8L2
Rottweiler (bilat sensorineural, onset few w): LOXHD1
Doberman Pinscher
1/ (vestibular deficits, onset < 10w, neuroepitelial degeneration, absent startle response): MYO7A
2/ dysfunction of periph vestib and unilat deafness: PTPRQ

50
Q

mutations associated with dyskinesia

A

soft-coated wheaten terrier: PIGN
Markiesje (weakness of all 4 limbs, dystonia, muscle cramps, stumbling or falling over): SOD1
Startle disease: SLC6A5, GLRA1
Weimaraner: TNR
Episodic falling syndrome in CKCS: BCAN

51
Q

mutations associated with Startle disease

A

= hyperekplexia
onset at birth
widespread or sporading stiffening of their limbs, triggered by sudden hnadling or loud noises
Irish Wolfhound (cyanosis and pneumonia while feeding), Spannish Greyhound: SLC6A5
Miniature Australian Sheperd: GLRA1 (glycine receptor alpha 1)

52
Q

Dyskinesia associated with TNR mutation

A

Weimaraner
paroxysmal dystonia-ataxia, sometimes leading to collapse +/- kyphosis, holding head low
onset 3-7m
casal episode (5-15m): emotional arousal or physical activity

53
Q

mut + breed associated with neonatal encephalopathy with seizures

A

Standart Poodle
mut ATF2
born small and do not undergo normal development
3w: weakness, ataxia, tremors, increase m stiffness, neck ventroflexion
3-6w: generalised clonic-tonic seiz, opisthotonus
maj dead before 7w

54
Q

mut + breed associated with subacute necrotizing encephalopathy

A

Alaskan Husky and Yorkshire
mut SLC19A3
altered mentation, seizure, blindness, dysphagia, hypermetria, tetraparesis, facial hypolagesia

55
Q

mut + breed associated with hereditary necrotizing myelopathy

A

Dutch Kooiker
IBA57

56
Q

mut associated with degenerative myelopathy

A

SOD1, transition (dif mut in Bernese Montain)

56
Q

mut associated with congenital hypomyelinating polyneuropathy in Golden

A

MTMR2 (myotubulin-related prot 2)
MPZ (myelin rpotein zero)
SH3TC2

57
Q

mut + breed associated with hypomyelination of the cns

A

Chow chow, Weimaraner (dysmyelination in peripheral region of SC, maj cerv and thor)
mut FNIP2 (folliculin-interacting protein 2)
wide-based stance, “rocking horse” motion of the body, hypermetria

58
Q

mut + breed associated with X-linked tremors

A

smaller size, ataxia, widespread tremors at 10-12w
do not surveive past 3-4m
hypomyelination in CNS (maj cerebrum, optic nerve)
springer Spaniel
mut PLP1

58
Q

mut + breed associated with leukodystrophies

A

1/ CYTB (mitochondrial gene for cytochrome B): Australian Cattle and Shetland Sheepdog: canine inherited spongiform leukoencephalopathy (vacuolation of WM in brain and sc), onset 2-9w, ataxia, m weakness, spasticity, dysfunction of CN

2/ TSEN54: Standart Schnauzer

3/ NAPEPLD: Great Dane, Rottweiler

4/GFAP: Alexander disease in Labrador (tetraparesis with spastic contraction of anteriors limbs)

58
Q

mut + breed associated with L-2-hydroxyglutaric aciduria

A

mut L2HGDH
Yorkshire Terrier, Staffordshire Bull Terrier
seizure, head tremors, cerebellar ataxia, m stiffness
buildup of L-2-hydroxyglutaric acid in CSF, plasma, urine

59
Q

mutation associated with abnormal metabolism of GABA (gamma-amino butyric acid)

A

succinic semialdehyde dehydrogenase deficiency
Saluki
seizures, changes in behaviour
cerebral cortical atropjhy + symmetric hyperint
mut ALDH5A1

60
Q

mutation associated with medium chain acyl-CoA dehydrogenase deficiency

A

associated with beta-oxydation process
CKCS
complex focal seizures (lethargy, propriocep def)
urine: excretion of hexanoylglycine and suberic acid peak
mut ACADM

61
Q

mut associated with cerebelalr hypoplasia and lissencephaly

A

White Swiss Sheperd
onset w
mut RELN (reelin)

62
Q

mutation associated with difficulties holding head

A

Miniature Dachshund
mut MYO5A
associated with color dilution (griscelli syndrome)

63
Q

mutation associated with narcolepsy

A

instance of drowsiness during the diurnal period , sudden episode of sleep, disruption of sleep pattern, shortened duration before entering rapid eye mvt sleep, occurence of cataplexy (sudden reduction of skeletal m tone) induces by excitement or positive stimuli
Doberman Pinsher, Labrador Retriever, Daschund
mut HCRTR2

64
Q

mutation associated with spinal dysraphism

A

Weimaraner, onset 2-4m
assymetry of dorsal GM,syringomyelia, scoiosis, projection and assymetry of ectopic GM
mut NKX2-8

65
Q

mutation associated with exercice induced collapse

A

labrador Retriever, Chesapeake Bay retriever, Curly-coated retriever
mut DNM1

66
Q
A

inherited disorders (1 decks)

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