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Neurology Flashcards

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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
glycogen storage disease type 2 (pompe disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
oligosaccharidosis/glycogenosis. acid alpha-glucosidase. GAA. Lapphund dog, DSH. Ataxia, muscle weakness.
26
glycogen storage disease type 3 (cori disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
oligosaccharidosis/glycogenosis. amyloid-1,6-glucosidase. AGL. Akita, GSD, Curly-coated retriever*. Lethargy, exercise intolerance, organomegaly.
27
glycogen storage disease type 4 (anderson disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
oligosaccharidosis/glycogenosis. glycogen ranching enzyme. GBE1. Norwegian forest cat*. Cerebellar ataxia, tremor, weakness, tetraplegia (PNS and CNS) neuromuscular, organomegaly.
28
glycogen storage disease type 7 (Tarui disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
oligosaccharidosis/glycogenosis. phosphofructokinase. PFKM. English springer spaniel*, american cocker spaniel*, whippet*, wachtelhund dog*. exercise intolerance, rhabdomyolysis
29
mucolipidosis II (I-cell disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucolipidosis. N-acetylglucosamine-1-phosphotransferase. GNPTA. DSH*. Facial dysmorphism, dullness, retinal, ataxia
30
GM1-gangliosidosis type 1 (norman-landing disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
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
31
GM2-gangliosidosis (tay-sachs disease) (variant B): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
sphingolipidosis. Beta-N-acetyl hexosaminidase A (alpha subunit). HEXA. German shorthair pointer, Japanese chin*. Cerebellar ataxia
32
GM2-gangliosidosis (Sandhoff disease) (Variant O): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
Sphingolipidosis. Beta-N-acetyl hexosaminidase B (beta subunit). HEXB. Golden retriever, Toy Poodle*, DSH*, Korat*, Burmese*. Cerebellar ataxia.
33
GM2AB-gangliosidosis (Bernheimer-Seitelberger disease) (variant AB): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
Sphingolipidosis. GM2 activator protein deficiency. GM2A. DSH*. cerebellar ataxia
34
galactosialidosis: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
sphingolipidosis. galactosialidosis with alpha-neuraminidase. Schipperki. cerebellar ataxia
35
gldcocerebrosidosis (Gaucher's disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
sphingolipidosis. Beta-D-gluco cerebrosidase. Sydney silky dog. Cerebellar ataxia
36
Globoid cell leukodystrophy (Krabbe's disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
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
37
metachromatic leukodystrophy: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
sphingolipidosis. arylsulfatase A. DSH. progressive motor dysfunction, seizures, opisthotonus, neuropathy.
38
sphingomyelinosis (Niemann-Pick disease type A): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
spingolipidosis. sphingomyelinase. miniature poodle, Balinese, Siamese. cerebellar ataxia, tremor, paraparesis, neuropathy
39
Neumann-Pick disease type C: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
sphingolipidosis. cholesterol esterification deficiency. NPC1, NPC2. Boxer, DSH*. cerebellar ataxia, hepatomegaly (dogs only), neuropathy (dogs only)
40
mucopolysaccharidosis I (hurler's syndrome): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucopolysaccharidosis. alpha-L-iduronidase. IDUA. Pott hound*, rottweiler, DSH*. growth retardation, facial deformity, lameness, corneal opacity.
41
mucopolysaccharidosis II: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucopolysaccharidosis. Iduronate-2-sulfate solfatare. labrador retreiver. cerebellar ataxia, exercise intolerance, corneal opacity, facial dysmorphism.
42
mucopolysaccharidosis III (A): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucopolysacchardiosis. heparin sulphamidase. SGSH. Huntaway dog*, wirehaired dachshund. cerebellar ataxia, tremor, retinal degeneration, corneal opacity.
43
mucopolysaccharidosis III (B): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucopolysacchardiosis. N-acetyl-alpha-D-glucosaminidase. NAGLU. schipperke*. cerebellar ataxia, tremor, retinal degeneration, corneal opacity.
44
mucopolysaccharidosis III (E): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucopolysacchardiosis. arylsulfatase G. ARSG. american staffordshire terrier*. cerebellar ataxia, tremor, retinal degeneration, corneal opacity.
45
mucopolysaccharidosis VI (maroteaux-lamy disease): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
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
mucopolysaccharidosis VII (sly syndrome): list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
mucopolysaccharidosis. Beta-D-glucuronidase. GUSB. DSH*, mixed breed dog. dog - paraparesis, cardiac; cat - growth retardation, facial deformity, corneal opacity, spinal proliferation
47
CLN 1: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): palmitoyls protein thioesterase 1. PPT1. Miniature dachshund*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
48
CLN 2: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): tripeptidyl-peptidase. TPP1. longhaired dachshund*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
49
CLN 5: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): soluble lysosomal protein CLN5. CLN5. border collie*, golden retirever*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
50
CLN 6: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): transmembrane protein CLN6. CLN6. australian shepherd*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
51
CLN 7: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): major facilitator superfamily domain MFSD8. MFSD8. chinese crested*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
52
CLN 8: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): transmembrane protein CLN8. CLN8. english setter*, australian shepherd*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
53
CLN 10: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): cathepsin D. CTSD. american bulldog*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
54
CLN 12: list type of storage disease, enzyme/protein deficient, mutation (if known), breed, c/s
neuronal ceroid lipofuscinosis (Batten's disease): P-type ATPase. ATP13A2. tibetan terrier*. visual deficits, cerebellar ataxia, cognitive impairment, myoclonus, seizure
55
what breeds have increased risk of primary intracranial neoplasia?
boxer, boston terrier, golden retriever, french bulldog, rat terrier
56
dolichocephalic dogs have increased risk of what type of brain tumor
meningioma
57
brachycephalic breeds have increased risk of what type of brain tumor
glioma
58
what breeds are at increased risk for meningioma
golden retriever, mini schnauzer, rat terrier
59
what breeds are at increased risk for gliomas?
english toy spaniel, boston terrier, french bulldog, boxer, english bulldog, bullmastiff
60
what breeds are at increased risk for choroid plexus tumors / ependymomas?
dalmatian, english setter
61
dogs > x kg are at increased risk of meningioma
15kg
62
what two breeds have DEcreased risk of primary intracranial tumors?
doberman pinscher, cocker spaniel
63
Malin gene mutation (EPM2b or NHCLRC1)
Dachshunds (Lafora disease)
64
TPP1, PPT1 gene mutations
Dachshunds - neuronal ceroid lipofuscinosis
65
CLN5 gene mutation
border collies - neuronal ceroid lipofuscinosis
66
CLN8 gene mutation
cattle dogs and english setter - neuronal ceroid lipofuscinosis
67
ATP13A2 gene mutation
tibetan terrier - neuronal ceroid lipofuscinosis
68
potassium channel KCNJ10 mutation
jack russell terriers - spinocerebellar ataxia with myokymia and seizures
69
ATF2 transcription factor mutation
standard poodle = neonatal encephalopathy with seizures
70
LGI2 gene mutation
Lagotto Romagnolo dog - idiopathic epilepsy (remitting focal epilepsy). LGI2 is part of a pre-synaptic, voltage-gated potassium channel complex
71
ADAM23 gene mutation
belgian shepherd dogs - increased risk of seizures. ADAM23 is part of a pre-synaptic, voltage-gated potassium channel complex
72
what two breeds are overrepresented in CVAs?
greyhounds, CKCS
73
#1 breed for ischemic stroke
greyhound (more predisposed than all other breeds combined, possibly d/t hypertension)
74
cerebellar territorial infarcts
CKCS
75
NME
pug, maltese; also chihuahua, shih tau, pekingese, papillon, yorkie, coton de tulear, brussels griffon, staffordshire terrier
76
NLE
yorkie; also french bulldog
77
EME
rottweiler, golden retriever, belgian tervuren
78
progressive neuronal abiotrophy
kerry blue terriers, chinese crested
79
lissencephaly
lhasa aspo, irish setter, wire fox terrier, samoyed
80
polymicrygyria
standard poodles: disorder of cerebrocortical development resulting in excessive production of small gyro and often accompanied by hydrocephalus. cortical blindness is #1 sign
81
chiari-like malformation and syringohydromyelia
CKCS, brussels griffon
82
idiopathic horner's syndrome
golden retriever
83
congenital unilateral vestibular disease
GSD, english cocker, doberman, smooth haired fox terrier, siamese, burmese, tonkinese
84
bilateral congenital vestibular disease
akita, beagle
85
lumbosacral stenosis
GSD
86
spinal arachnoid diverticula (cysts)
rottweilers, pugs +/- french bulldog (thoracolumbar area, specifically)
87
familial degenerative myelopathy
rhodesian ridgeback | boxer
88
acquired myasthenia gravis
``` Akita GSP Chihuahua GSD Golden Retriever Newfoundland Abyssinian Somali ```
89
congenital MG
``` jack russel terrier smooth fox terrier springer spaniel samoyed smooth-haired miniature dachshund gammel dansk honsehund (GDH) dogs ```
90
Arg256Leu DNM1 mutation: mutation in gene encoding for protein dynamin 1 (DNM1)
labrador retriever: exercise-induced collapse
91
hypokalemic periodic polymyopathy: breed, clinical signs, diagnosis, treatment
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
muscular dystrophy associated with alpha-dystroglycan deficiency: breed, c/s
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
primary hyperchylomicronemia: breed, c/s, treatment
DSH, DLH, Himalayan, Persian, Siamese. progressive, focal/multifocal, asymmetric mononeuropathy d/t lipid granulomas compressing peripheral nerves. treat with low-fat diet.
94
primary hyperoxaluria (L-glyceric acuduria): breed, c/s
DSH. acute onset, weakness, tetra paresis, decreased spinal reflexes, decreased nociception, abdominal pain; poor prognosis d/t acute kidney injury and uremia
95
axonal polyneuropathy: breed. c/s. tx.
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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