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Breed Predispositions > Neurology > Flashcards

Neurology Flashcards

1
Q

mGluR1 gene mutation (GRM1)

A

coton de tulear - impaired motor learning and severe cerebellar ataxia

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2
Q

hypo- and dysmyelinogenesis

A

dalmatian, springer spaniel, samoyed, chow chow, weimaraner, lurcher, bernese mountain dog. Chow: improvement with time; springer spaniel: permanently disabled

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3
Q

mutation in PLP (myelin proteolipid protein)

A

springer spaniel (leads to hypo/dysmyelinogenesis)

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4
Q

FNIP2 (follicular interacting protein 2) mutation

A

weimaraner: autosomal recessive demyelinating disorder of weimaraner puppies; may be responsible for a delay in migration or differentiation of a subpopulation of oligodendrocyte progenitor cells

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5
Q

mutation in thyroid peroxidase gene

A

rat terriers: causes congenital hypothyroidism with goiter; patients have regional CNS hypomyelination, most evident in corpus callosum

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6
Q

leukodystrophy

A

dalmatian, labrador, scottie, bull mastiff, sheltie, mini poodle

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7
Q

myelinolysis

A

afghan hound, miniature poodle, dutch kooiker

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8
Q

spongiform leukoencephalomyelopathy

A

border terrier, silky terrier, labrador retriever

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9
Q

central axonopathy

A

JRT, smooth fox terrier, scottie, labrador

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10
Q

CAPN1 mutation

A

parson russell terrier; encodes for a cysteine-related protease mutation; associated with late-onset spinocerebellar ataxia

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11
Q

central-peripheral axonopathy

A

ibizan hound, alaskan husky, boxer, pyrenean mountain dog, new zealand huntaway,
Birman - slowly progressive palmigrade stance with adduction of hocks; hyper metric gait and paraparesis

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12
Q

SOD1 mutation

A

canine degenerative myelopathy; many breeds

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13
Q

MT-TY gene (tRNA-Try) mutation

A

golden retrievers; this mutation impairs respiratory chain enzyme activity; sensory central-peripheral axonopathy, maternal inheritance, c/s ataxia and dysmetria starting at 2-8 mo’s of age

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14
Q

SLC19A3 mutation / mitochondrial encephalopathy

A

encodes thiamine transporter protein; seen in alaskan husky < 1yo

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15
Q

subacute necrotizing encephalopathy associated with combined respiratory chain defects

A

yorkie, american staffordshire bull terrier

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16
Q

hereditary selective cobalamin malabsorption

A

giant schnauzer, beagle, border collie, australian shepherd dogs; d/t mutations in amnionless gene (AMN - Giant Schnauz, Aussie) or cubulin gene (CUBN - Beagle, Border collie))

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17
Q

AMN mutation

A

Giant Schnauzer, Australian Shepherd; leads to hereditary selective cobalamin malabsorption

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18
Q

Cubulin mutation

A

beagle, border collie; leads to hereditary selective cobalamin malabsorption

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19
Q

hereditary L-2-hydroxyglutaric aciduria and L2HGDH mutation

A

yorkies and staffordshire bull terrier; leads to seizures, ataxia, and altered behavior; due to mutation in the dehydrogenase that metabolizes the organic acid

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20
Q

hereditary cerebellar ataxia, RAB24 gene mutation: what breed, and what is RAB24 a gene for?

A

gordon setter, OES. RAB24 is a gene for autophagy.

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21
Q

Fucosidosis: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

glycoproteinosis. alpha-L-fucosidase. FUCA1. english springer spaniel*. cerebellar ataxia, behavioral change, dysphonia, dysphagia, seizures.

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22
Q

Mannosidosis (alpha-mannosisdosis): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

glycoproteinosis. alpha-D-mannosidase. MANB. DSH, DLH, Persian*. Cerebellar ataxia, tremor, corneal opacity, skeletal anomalies, neuropathy.

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23
Q

Lafora’s disease: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

Glycoproteinosis. Alpha-glucosidase. EPM2A. Beagle, basset, poodle, wirehaired dachshund*, DSH. myoclonic epilepsy, dullness.

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24
Q

glycogen storage disease type 1 (von gierke disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

oligosaccharidosis/glycogenosis. glucose-6-phosphatase. M121I. Silky terrier, Maltese*, toy breeds, DSH. weakness, seizures, stupor

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25
Q

glycogen storage disease type 2 (pompe disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

oligosaccharidosis/glycogenosis. acid alpha-glucosidase. GAA. Lapphund dog, DSH. Ataxia, muscle weakness.

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26
Q

glycogen storage disease type 3 (cori disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

oligosaccharidosis/glycogenosis. amyloid-1,6-glucosidase. AGL. Akita, GSD, Curly-coated retriever*. Lethargy, exercise intolerance, organomegaly.

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27
Q

glycogen storage disease type 4 (anderson disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

oligosaccharidosis/glycogenosis. glycogen ranching enzyme. GBE1. Norwegian forest cat*. Cerebellar ataxia, tremor, weakness, tetraplegia (PNS and CNS) neuromuscular, organomegaly.

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28
Q

glycogen storage disease type 7 (Tarui disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

oligosaccharidosis/glycogenosis. phosphofructokinase. PFKM. English springer spaniel, american cocker spaniel, whippet, wachtelhund dog. exercise intolerance, rhabdomyolysis

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29
Q

mucolipidosis II (I-cell disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucolipidosis. N-acetylglucosamine-1-phosphotransferase. GNPTA. DSH*. Facial dysmorphism, dullness, retinal, ataxia

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30
Q

GM1-gangliosidosis type 1 (norman-landing disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

spingolipidosis. Beta-D-galactosidase. GLB1. Beagle, Portuguese water dog, english springer spaniel, siberian husky, shiba dog, DSH, Siamese, Korat. Cerebellar ataxia, corneal clouding, tremor, seizures, paralysis, skeletal facial dysmorphism

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31
Q

GM2-gangliosidosis (tay-sachs disease) (variant B): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

sphingolipidosis. Beta-N-acetyl hexosaminidase A (alpha subunit). HEXA. German shorthair pointer, Japanese chin*. Cerebellar ataxia

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32
Q

GM2-gangliosidosis (Sandhoff disease) (Variant O): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

Sphingolipidosis. Beta-N-acetyl hexosaminidase B (beta subunit). HEXB. Golden retriever, Toy Poodle, DSH, Korat, Burmese. Cerebellar ataxia.

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33
Q

GM2AB-gangliosidosis (Bernheimer-Seitelberger disease) (variant AB): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

Sphingolipidosis. GM2 activator protein deficiency. GM2A. DSH*. cerebellar ataxia

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34
Q

galactosialidosis: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

sphingolipidosis. galactosialidosis with alpha-neuraminidase. Schipperki. cerebellar ataxia

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35
Q

gldcocerebrosidosis (Gaucher’s disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

sphingolipidosis. Beta-D-gluco cerebrosidase. Sydney silky dog. Cerebellar ataxia

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36
Q

Globoid cell leukodystrophy (Krabbe’s disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

sphingolipidosis. Beta-D-galactosyl ceramidase. GALC. WHWT, Cairn terrier, Beagle, poodle, australian kelpie, basses hound, blue tick hound, pomeranian, irish setter*, DSH, DLH. cerebellar ataxia, tremor, paraparesis, neuropathy

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37
Q

metachromatic leukodystrophy: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

sphingolipidosis. arylsulfatase A. DSH. progressive motor dysfunction, seizures, opisthotonus, neuropathy.

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38
Q

sphingomyelinosis (Niemann-Pick disease type A): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

spingolipidosis. sphingomyelinase. miniature poodle, Balinese, Siamese. cerebellar ataxia, tremor, paraparesis, neuropathy

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39
Q

Neumann-Pick disease type C: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

sphingolipidosis. cholesterol esterification deficiency. NPC1, NPC2. Boxer, DSH*. cerebellar ataxia, hepatomegaly (dogs only), neuropathy (dogs only)

40
Q

mucopolysaccharidosis I (hurler’s syndrome): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysaccharidosis. alpha-L-iduronidase. IDUA. Pott hound, rottweiler, DSH. growth retardation, facial deformity, lameness, corneal opacity.

41
Q

mucopolysaccharidosis II: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysaccharidosis. Iduronate-2-sulfate solfatare. labrador retreiver. cerebellar ataxia, exercise intolerance, corneal opacity, facial dysmorphism.

42
Q

mucopolysaccharidosis III (A): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysacchardiosis. heparin sulphamidase. SGSH. Huntaway dog*, wirehaired dachshund. cerebellar ataxia, tremor, retinal degeneration, corneal opacity.

43
Q

mucopolysaccharidosis III (B): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysacchardiosis. N-acetyl-alpha-D-glucosaminidase. NAGLU. schipperke*. cerebellar ataxia, tremor, retinal degeneration, corneal opacity.

44
Q

mucopolysaccharidosis III (E): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysacchardiosis. arylsulfatase G. ARSG. american staffordshire terrier*. cerebellar ataxia, tremor, retinal degeneration, corneal opacity.

45
Q

mucopolysaccharidosis VI (maroteaux-lamy disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysaccharidosis. N-acetylgalactosamine 4-sulfase (arylsulfatase B). ARSB. Miniature pinscher, miniature schnauzer, miniature poodle, welsh corgi, Siamese, DSH. growth retardation, facial deformity, corneal opacity, spill proliferations

46
Q

mucopolysaccharidosis VII (sly syndrome): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

mucopolysaccharidosis. Beta-D-glucuronidase. GUSB. DSH*, mixed breed dog. dog - paraparesis, cardiac; cat - growth retardation, facial deformity, corneal opacity, spinal proliferation

47
Q

CLN 1: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): palmitoyls protein thioesterase 1. PPT1. Miniature dachshund*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

48
Q

CLN 2: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): tripeptidyl-peptidase. TPP1. longhaired dachshund*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

49
Q

CLN 5: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): soluble lysosomal protein CLN5. CLN5. border collie, golden retirever. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

50
Q

CLN 6: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): transmembrane protein CLN6. CLN6. australian shepherd*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

51
Q

CLN 7: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): major facilitator superfamily domain MFSD8. MFSD8. chinese crested*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

52
Q

CLN 8: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): transmembrane protein CLN8. CLN8. english setter, australian shepherd. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

53
Q

CLN 10: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): cathepsin D. CTSD. american bulldog*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

54
Q

CLN 12: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s

A

neuronal ceroid lipofuscinosis (Batten’s disease): P-type ATPase. ATP13A2. tibetan terrier*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure

55
Q

what breeds have increased risk of primary intracranial neoplasia?

A

boxer, boston terrier, golden retriever, french bulldog, rat terrier

56
Q

dolichocephalic dogs have increased risk of what type of brain tumor

A

meningioma

57
Q

brachycephalic breeds have increased risk of what type of brain tumor

A

glioma

58
Q

what breeds are at increased risk for meningioma

A

golden retriever, mini schnauzer, rat terrier

59
Q

what breeds are at increased risk for gliomas?

A

english toy spaniel, boston terrier, french bulldog, boxer, english bulldog, bullmastiff

60
Q

what breeds are at increased risk for choroid plexus tumors / ependymomas?

A

dalmatian, english setter

61
Q

dogs > x kg are at increased risk of meningioma

A

15kg

62
Q

what two breeds have DEcreased risk of primary intracranial tumors?

A

doberman pinscher, cocker spaniel

63
Q

Malin gene mutation (EPM2b or NHCLRC1)

A

Dachshunds (Lafora disease)

64
Q

TPP1, PPT1 gene mutations

A

Dachshunds - neuronal ceroid lipofuscinosis

65
Q

CLN5 gene mutation

A

border collies - neuronal ceroid lipofuscinosis

66
Q

CLN8 gene mutation

A

cattle dogs and english setter - neuronal ceroid lipofuscinosis

67
Q

ATP13A2 gene mutation

A

tibetan terrier - neuronal ceroid lipofuscinosis

68
Q

potassium channel KCNJ10 mutation

A

jack russell terriers - spinocerebellar ataxia with myokymia and seizures

69
Q

ATF2 transcription factor mutation

A

standard poodle = neonatal encephalopathy with seizures

70
Q

LGI2 gene mutation

A

Lagotto Romagnolo dog - idiopathic epilepsy (remitting focal epilepsy). LGI2 is part of a pre-synaptic, voltage-gated potassium channel complex

71
Q

ADAM23 gene mutation

A

belgian shepherd dogs - increased risk of seizures. ADAM23 is part of a pre-synaptic, voltage-gated potassium channel complex

72
Q

what two breeds are overrepresented in CVAs?

A

greyhounds, CKCS

73
Q

1 breed for ischemic stroke

A

greyhound (more predisposed than all other breeds combined, possibly d/t hypertension)

74
Q

cerebellar territorial infarcts

A

CKCS

75
Q

NME

A

pug, maltese; also chihuahua, shih tau, pekingese, papillon, yorkie, coton de tulear, brussels griffon, staffordshire terrier

76
Q

NLE

A

yorkie; also french bulldog

77
Q

EME

A

rottweiler, golden retriever, belgian tervuren

78
Q

progressive neuronal abiotrophy

A

kerry blue terriers, chinese crested

79
Q

lissencephaly

A

lhasa aspo, irish setter, wire fox terrier, samoyed

80
Q

polymicrygyria

A

standard poodles: disorder of cerebrocortical development resulting in excessive production of small gyro and often accompanied by hydrocephalus. cortical blindness is #1 sign

81
Q

chiari-like malformation and syringohydromyelia

A

CKCS, brussels griffon

82
Q

idiopathic horner’s syndrome

A

golden retriever

83
Q

congenital unilateral vestibular disease

A

GSD, english cocker, doberman, smooth haired fox terrier, siamese, burmese, tonkinese

84
Q

bilateral congenital vestibular disease

A

akita, beagle

85
Q

lumbosacral stenosis

A

GSD

86
Q

spinal arachnoid diverticula (cysts)

A

rottweilers, pugs +/- french bulldog (thoracolumbar area, specifically)

87
Q

familial degenerative myelopathy

A

rhodesian ridgeback

boxer

88
Q

acquired myasthenia gravis

A 
Akita
GSP
Chihuahua
GSD
Golden Retriever
Newfoundland
Abyssinian
Somali
89
Q

congenital MG

A 
jack russel terrier
smooth fox terrier
springer spaniel
samoyed
smooth-haired miniature dachshund
gammel dansk honsehund (GDH) dogs
90
Q

Arg256Leu DNM1 mutation: mutation in gene encoding for protein dynamin 1 (DNM1)

A

labrador retriever: exercise-induced collapse

91
Q

hypokalemic periodic polymyopathy: breed, clinical signs, diagnosis, treatment

A

Burmese, episodic and acute onset of passive ventroflexion of neck, myalgia, head bobbing, stiff gait, weakness; normal between episodes. intermittent hypokalemia and increased CK. Treat with oral K+

92
Q

muscular dystrophy associated with alpha-dystroglycan deficiency: breed, c/s

A

sphynx, devon rex. inability to jump, ventroflexion of neck, difficulty swallowing, dorsal protrusion of scapulae, crouching gait, fatiguability after short periods of activity. No treatment, death d/t laryngospasm or aspiration

93
Q

primary hyperchylomicronemia: breed, c/s, treatment

A

DSH, DLH, Himalayan, Persian, Siamese. progressive, focal/multifocal, asymmetric mononeuropathy d/t lipid granulomas compressing peripheral nerves. treat with low-fat diet.

94
Q

primary hyperoxaluria (L-glyceric acuduria): breed, c/s

A

DSH. acute onset, weakness, tetra paresis, decreased spinal reflexes, decreased nociception, abdominal pain; poor prognosis d/t acute kidney injury and uremia

95
Q

axonal polyneuropathy: breed. c/s. tx.

A

snowshoe cat. insidious onset, slightly progressive, intermittent pelvic limb weakness with decreased withdrawal reflex bilaterally. supportive care, may stabilize or resolve

Breed Predispositions (4 decks)

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