Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

mutation associated with hereditary ataxia in Norwegian Buhund

A

KCNIP4 (K channel)
early onset, progressive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

mutation associated with hereditary ataxia in Coton de Tulear

A

GRM1 (metabotropic glutamate receptor 1)
onset 2w

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

mutation associated with hereditary ataxia in Finnish Hound

A

SEL1L

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

mutation associated with hereditary ataxia in Norwegian Elkhound

A

HACE1
Vestibulocerebellar signs, lesion in BS + cerebellum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

mutation associated with hereditary ataxia in Italian Spinone

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

mutation associated with hereditary ataxia in Alpine Dachsbracke

A

SCN8A (voltage gated Na channel)
spinocerebellar ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

mutation associated with hereditary ataxia in Beagle

A

SPTBN2
encode spectrin
progressive cereb ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

mutation associated with hereditary ataxia in Australian working Kelpie

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

mutation associated with hereditary ataxia in Hungarian Vizla

A

SNX14
cerebellar cortical degeneration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

mutation associated with hereditary ataxia in Novia Scotia Duck Tolling Retriever

A

SLC25A12
cerebellar degeneration + miositis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

mutation associated with hereditary ataxia in Australian Sheperd

A

PNPLA8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

mutation associated with hereditary ataxia in Lagotto Romagnolo

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

mucopolysaccharidosis associated with inadequate function pf enzyme for degradation of …

A

glycosaminoglycans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

MPS type I

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

MPS IIIA

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

MPS IIIB

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
MPS type VI
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
26
MPS type VII
hydrolase beta-glucuronidase gene GUSB4 german Shperd, Brazilian Terrier disproportionate dwarfism, excessive joint flexibility, muscular atrophy, cloudy cornea with diffuse granularities
27
mucopolysaccharidosis in American Staffordshire terrier
late onset (3-5y) def arylsulfatase ataxia, no visual imparement cerebellar atrophy gene ARSG
28
alpha-mannosidosis
deficiency in alpha-mannosidase gene MAN2B1 Doberman Pinscher (2m) proprioceptive ataxia, immue deficiency, skeletal irregularities, hearing imparement, cognitive deficiency, strabismus
29
beta-mannosidosis
German Sheperd mut MANBA def beta-mannosidase (glycoprot catabolism) slow grow, retained decidious teeth, deafness, prorpioceptive deficit
30
GM1 gangliosidosis
GLB1 gene loss of activity of beta-galactosidase onset 5m cerebellar signs,limb weakness, dwarfism Portugese water dog, Shiba Inu, Alaskan Husy
31
GM2 gangliosidoses
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
glycogen storage disease type II
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
Alpha fucosidosis
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
Krabbe disease
def galactocerebrosidase activity onset 4-6w tremors and weakness of PL, ataxia to paralysis by3-5m Cairn Terrier, WESTIE, Irish Setter mut GALC
35
neuro-axonal dystrophy
****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
mutation associated with sensory neuropathy in mixed breed dog
SCN9A absence of superficial and deep pain perception of the entire body
37
sensory ataxic neuropathy : breed and mutation
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
sensory polyneuropathy in Border Collie
mut FAM134B (RETREG1) coding for reticulophary regulator 1 progressive proprioceptive ataxia, generalised m atrophy, knuckling, self mutilating wounds
39
acral mutilation syndrome
begin in young puppies insensitivity to pain in extremities, licking/self mutilation to the feet normal proprioception, motricity, spinal reflex
40
polyneuropathy in Leonberg
1/ ARHGEF10 : st bernard and leonberg, juvenile onset, progressive, mixed. laryngeal paral 2/ GJA9 3/ CNTNAP1 : Leonberg, St Bernard, Labrador
41
polyneuropathy in Miniatude Schnauzer
SBF2 demyelinating motor and sensory neuropathy
42
mutation associated with polyneuropathy in Greyhound, Alaskan Malamutes
NDGR1
43
pathology associated with RAB3GAP1 mutation
1/ polyneuropathy with ocular abnomalities and neuronal vacuolation in Black russian terrier and Alaskan Huskies 2/ neuronal vacuolation and spinocerebellar degeneration in rottweiler
44
mutation associated with myasthenia gravis
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
mutation/breed epilepsy with photosensitivity
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
mutation associated with beign familial epilspy
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
Lafora disease: breeds and mutation
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
mut associated with epilepsy in Parson Russel Terrier
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
mut assocaited with deafness
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
mutations associated with dyskinesia
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
mutations associated with Startle disease
= 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
Dyskinesia associated with TNR mutation
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
mut + breed associated with neonatal encephalopathy with seizures
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
mut + breed associated with subacute necrotizing encephalopathy
Alaskan Husky and Yorkshire mut SLC19A3 altered mentation, seizure, blindness, dysphagia, hypermetria, tetraparesis, facial hypolagesia
55
mut + breed associated with hereditary necrotizing myelopathy
Dutch Kooiker IBA57
56
mut associated with degenerative myelopathy
SOD1, transition (dif mut in Bernese Montain)
56
mut associated with congenital hypomyelinating polyneuropathy in Golden
MTMR2 (myotubulin-related prot 2) MPZ (myelin rpotein zero) SH3TC2
57
mut + breed associated with hypomyelination of the cns
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
mut + breed associated with X-linked tremors
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
mut + breed associated with leukodystrophies
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
mut + breed associated with L-2-hydroxyglutaric aciduria
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
mutation associated with abnormal metabolism of GABA (gamma-amino butyric acid)
succinic semialdehyde dehydrogenase deficiency Saluki seizures, changes in behaviour cerebral cortical atropjhy + symmetric hyperint mut ALDH5A1
60
mutation associated with medium chain acyl-CoA dehydrogenase deficiency
associated with beta-oxydation process CKCS complex focal seizures (lethargy, propriocep def) urine: excretion of hexanoylglycine and suberic acid peak mut ACADM
61
mut associated with cerebelalr hypoplasia and lissencephaly
White Swiss Sheperd onset w mut RELN (reelin)
62
mutation associated with difficulties holding head
Miniature Dachshund mut MYO5A associated with color dilution (griscelli syndrome)
63
mutation associated with narcolepsy
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
mutation associated with spinal dysraphism
Weimaraner, onset 2-4m assymetry of dorsal GM,syringomyelia, scoiosis, projection and assymetry of ectopic GM mut NKX2-8
65
mutation associated with exercice induced collapse
labrador Retriever, Chesapeake Bay retriever, Curly-coated retriever mut DNM1
66

inherited disorders (1 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions