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BRAIN - degenerative Flashcards

1
Q

Which disease to suspect in a cat with calvarial hyperostosis and seizures?

A

major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7)

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2
Q

What can be found in CSF with mucopolysaccharidosis type I?​

A

Large mononuclear cells
with numerous 1‐3 μm round, metachromatic cytoplasmic granules
(suggestive of a lysosomal storage disease)

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3
Q

mut leucodystrophy

A

Leukodystrophy
Standard Schnauzer
TSEN54

MRI diffuse T2 hyperint in WM
WM severe multifocal reduction of myelin formation and moderate diffuse edema

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4
Q

morphometric factors on MRI have been found to be statistically different between Amstaffs with ceroid lipofuscinosis and normal Amstaffs?

A

Brainstem cross section area image/ cerebellar cross-section area on a mid-sagittal image

Relative cerebellar size (on sagittal T2 image, cerebellar cross sectional area * 100 / brain including brainstem)

Relative CSF space ((Cerebellum + CSF)- cerebellum)*100/ cerebellum+CSF

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5
Q

Which gene is associated with β-Mannosidosis in German Shepherd Dogs ? Which protein? Which histopathological findings?

A

MANBA gene

Lysosomal beta-A-mannosidase

Severe foamy vacuolation of neurons and astrocytes, with intracellular accumulation of mannose-containing oligosaccharides

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6
Q

KNCJ10 mutation in Bouvier des Ardennes has variable clinical severity? Which BAER waves are abnormal ? What is the life threatening condition?

A

True: clinical signs started at 6 weeks of age in 1 puppy with severe signs of cerebellar disease, and at 7 to 10 weeks of age in the 4 remaining puppies with milder signs of spinocerebellar disease.

BAER: loss of waves III/IV and V

Life threatening condition: rigidity and tremors in lateral recumbency causing severe hyperthermia

cerebellar spongy degeneration and a focal symmetrical demyelinating myelopathy
allele frequency of 15%

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7
Q

In hereditary ataxia of JRT and smooth haired fox terriers, give: affected tracts and brainstem nuclei,gene, protein.

A

Spinocerebellar tract (mostly thoracolumbar), lateral lemniscus and trapezoid body

KCNJ10

Voltage-gated K+ channels, subfamily J, member 10

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8
Q

What are the BAER findings associated with ARSG mutation?

A

Decreased amplitudes of waves I and II
Increased inter-wave latency for waves III to V

sulfatase deficiency, associated with neuronal ceroid lipofuscinosis
American Staffordshire Terrier

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9
Q

Which lysosomal storage diseases are associated with storage product accumulation in urine?

A

Mannosidosis
Mucopolisaccharidoses
Fuccosidosis

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10
Q

In Staffordshire bull terriers with L-2-Hydroxyglutaric aciduria, what 2 are the most prominent clinical signs, present in almost all cases?

A

Muscle stiffness/ cramps and behavioral changes

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11
Q

Give the mutations associated with neuronal ceroid lipofuscinosis in Dachshund.

A

PPT1 (CLN1)
TPP1 (CLN2)
Both are early-onset (8-10 months)

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12
Q

What is the only hypokinetic disorders in small animals?

A

Canine multiple system degeneration
Kerry blue terriers and Chinese crested dogs
SERAC1

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13
Q

Give a specific cerebellar disease in Border Terrier puppies. Which gene? Which clinical features?

A

Spongiform leucoencephalomyelopathy

SLEM

Phenotype: shaking puppy with cerebellar ataxia and severe generalized coarse body tremors.

Slow but progressive improvement over several months.

BAER: normal wave I, reduced amplitude of wave II and absence of waves III–VII.

MRI: bilateral and symmetrical T2 hyperintensities affecting the brainstem and cerebellar white matter.

Histology: spongiform change affecting the white matter of the cerebellum, brainstem and spinal cord with decreased myelin content.

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14
Q

What are the mutations described for cerebellar abiotrophy in dogs? In which breeds?

A

SPTBN2 (Beagle)
RAB24 (Gordon Setter, Old English Sheepdog)
SEL1L (Finnish Hound)
SNX14 (Hungarian Vizsla)
VMP1 (Australian Working Kelpie)

Scottish Terrier: CFAX -> very slow & polyglucosan body accumulation in molecular layer
Australian Kelpie: CFA20, CFA3

= cerebellar cortical degeneration (Purkinje vs. granuloprival)

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15
Q

What is MRI cut-off ratio for cerebellar atrophy in abiotrophic dogs?

A

Ratio brainstem area/cerebellum area > 89%
Control: 72%
Atrophy: 106%

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16
Q

What are the histopathologic findings with SELENOP mutation?

A

Belgian sheperd
uncoordinated movements and intention tremor at 2w
selenoprotein P required for selenium transport into the CNS
30% decreased of serum selenium
Atrophy of all layers of the cerebellum (depletion of Purkinje and granule cells)
Neuroaxonal degeneration in brainstem and spinal cord with decreased myelin in WM of brain and spinal cord

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17
Q

What is the specific clinical sign associated with hereditary cerebellar ataxia in Black Norwegian Elkhound? What is the mutation?

A

Hanging tail
HACE1

18
Q

What is the most relevant findings in pathology in hereditary ataxia in Scottish Terrier? What is the age on onset?

A

Polyglucosan body accumulation in the molecular layer
2 m – 6 y (76% were < 1 y)

CFA X

19
Q

What are the mutations described for multifocal degeneration with predominant (spino)cerebellar degeneration?

A

SERAC1 (Kerry Blue Terrier, Chinese Crested Dog)
SLC25A12 (Nova Scotia Duck Tolling Retrievers)
SELENOP (Belgian Shepherd)

ATG4D (Lagotto Romagnolo)
ARSG (American Staffordshire Terrier, Pitbull terrier)
ATP1B2 (Belgian Shepherd)

VPS11 (Rottweiler)
PNPLA8 (Australian Shepherd)
HACE1 (Black Norwegian Elkhound)
CTSD (American Bulldog)
GLB1 (Portuguese Water Dog)
vous pouvez hurler c’est genial

20
Q

What are the mutations described for spinocerebellar degenerations in dogs? In which breeds?

A

KCNJ10 (Belgian Shepherd, Bouvier des Ardennes, JRT, PRT, Smooth-Haired Fox Terrier, Toy Fox Terrier, Dachshund)

CAPN1 (JRT, PRT)

SLC12A6 (Belgian Shepherd)

SCN8A (Alpine Dachsbracke)

21
Q

Which mutation was described in spinocerebellar ataxia in Alpine Dachsbracke?

A

SCN8A
Autosomal recessive

22
Q

What are the 2 signs that can precede myokymia in KCNJ10 mutation?

A

Intense facial rubbing (in 50% dogs, precede myokymia, muscle stiffness, and collapse)
Neuromyotonia (minority of dogs)

Myokymia in 70-75% of JRT/PRT
Neuromyotonia in 80% of dogs

23
Q

What is the specificity concerning audition in smooth-haired fox terrier with KCNJ10 mutation?

A

No auditory lesion

(and no seizures)

24
Q

Which mutations are associated with slowly progressive cerebellar ataxia?

A

SPTBN2 (Beagle)
RAB24 (Gordon Setter, Old English Sheepdog)
VMP1 (Australian Working Kelpie)
CAPN1 (JRT, PRT) but euthanasia
KCNJ10 (small breeds: SHFT, JRT, PRT)
SLC12A6 (Belgian Shepherd)
RALGAPA1 (Belgian Shepherd)
GRM1 (Coton de Tulear – non progressive)
KCNIP4 (Norwegian Buhund)
PNPLA8 (Australian Shepherd)
SLC25A12 (NSDTR, Dutch Shepherd Dog)
ATG4D (Lagotto Romagnolo)
VPS11 (Rottweiler)
ARSG (American Staffordshire Terrier, Pitbull terrier)
CTSD (American Bulldog)
CFA X (Scottish terrier)

25
What are the 3 phenotypes described in KCNJ10? Which breeds are associated?
***SAMS*** (BS, BdA, JRT, PRT, Dachshund) SCA (dancing gait with exaggerated abduction of PL), seizures, myokymia, neuromyotonia, **absent menace response, absent patellar reflexes** ***SDCA1***(BS, BdA) **SCA more pronounced and progressing faster**, severe **intention remors**, truncal sway, stumbling, staggering, bunny hopping, loss of balance, falling, **delayed PR**, **non ambulatory by 2-4 m. No seizure, no myokymia, no neuromyotonia** ***Smooth-Haired Fox Terrier*** SCA, truncal sway, behavioral changes, nose rubbing No seizure
26
What are the 2 hereditary ataxias with low level of calbindin D-28K?
ITPR1 KCNIP4
27
What are the mutations described for cerebellar ataxias without substantial neurodegeneration?
GRM1 (Coton de Tuléar) ITPR1 (Italian Spinone) KCNIP4 (Norwegian Buhund)
28
What are the histopathologic findings with VPS11 mutation?
Neuroaxonal dystrophy in **Rottweiler** Typical lesions of NAD include the widespread presence of **swollen axons (spheroids) in the dorsal horns of the spinal cord, gracilis, and cuneatus nuclei, vestibular, lateral, and medial geniculate nuclei and a decreased number of Purkinje cells.** The accumulation of several synaptic proteins in dystrophic axons has been shown.
29
What can be found in degenerating Purkinje cells and thalamic neurons with ARSG mutation?
Fluorescent lipopigment
30
Which mutations are associated with rapidly progressive cerebellar ataxia?
**SEL1L** (Finnish Hound) **SNX14** (Hungarian Vizsla) KCNJ10 (large breeds: Belgian Shepherd, Bouvier des Ardennes – SDCA1 phenotype evolves more rapidly than SAMS phenotype) **SCN8A** (Alpine Dachsbracke) **ITPR1** (Italian Spinone) SERAC1 (Kerry Blue Terrier, Chinese Crested Dog) ATP1B2 (Belgian Shepherd) SELENOP (Belgian Shepherd) HACE1 (Black Norwegian Elkhound) GLB1 (Portuguese Water Dog)
31
Dogs with dementia spent more or less time in REM and NREM sleep?
Dogs with higher dementia scores and with worse performance in a problem-solving task spent less time in NREM and REM sleep.
32
3 dog breeds affected by motor neuron disease
**Brittany Spaniel** **English Pointer** **German Sheperd** **Rotweiller** Doberman Pinsher Griffon Briquet/vendeen Saluki Collie Swedish Lapland Giant Breed crosses
33
Mutation associated with motor neuron disease in cat
L1X1 Prolonged survival time
34
Jack-Russell Terrier × Chihuahua mixed-breed littermates with Leigh syndrome
cerebellar ataxia, dystonia, and increased **lactate** levels bilateral symmetrical T2 hyperintense lesions, histologically representing encephalomalacia. Muscle histopathology revealed **accumulation of mitochondria**. **NDUFS7** **thalamus** is commonly affected in **Alaskan huskies and Yorkshire** terriers with variants in **SLC19A3** and was not affected in the dogs from this report Lactate was significantly increased in blood and CSF in one of the cases from this study
35
Degenerative encephalopathy Saluki
**ALDH5A1** Canine **Succinic Semialdehyde Dehydrogenase Deficiency** (SSADHD) enzyme critical in the GABA metabolic pathway markedly elevated GABA in serum, CSF and brain, and elevated succinate semialdehyde in urine, CSF and brain. Cerebral cortical atrophy with vacuolation (status spongiosus) **seizures and altered behavior** Magnetic resonance imaging showed a diffuse, marked **reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity** in specific brain regions.
36
clinical signs associated with NCL
at least 4 of the following must be present: loss of vision behavioral changes (eg, development of aggressive behavior) loss of learned behaviors tremors cerebellar ataxia cognitive and motor decline sleep disturbance seizures NCLs are invariably fatal cerebral and cerebellar atrophy with widened cerebral sulci, cerebellar folia, and increased volume in the ventricular system
37
2 types of clinical manifestation for spinocerebellar ataxia in bouvier Ardennes/ Belgian Malinois
**spongy degeneration and cerebellar ataxia**: severe generalized cerebellar (hypermetric) ataxia, severe *intention tremors* onset at *4 to 8 weeks* of age euthanasia by *13 to 17 weeks* main lesion in the *cerebellum*: vacuolization of the cerebellar nuclei, Purkinje cells, granular cell layer and white matter, less severe or no lesions are found in the spinal cord. **Spinocerebellar ataxia with myokymia, seizures or both**: generalized (hypermetric) SCA with an onset at *6 to 8 w* of age, a consistent *absence of patellar reflexes*. some cases, the SCA is associated with a variable combination of *myokymia, neuromyotonia and epileptic seizures*. in Bouvier des Ardennes only one possible neuromyotonia. In the Belgian Malinois nonambulatory status and euthanasia *before 6 months of age bit earlier than Bouvier (7-11 months of age).* The predominant histopathological lesion: *bilateral myelopathy with a predominant axonopathy* and myelin vacuolization, maj in the *corticospinal* tracts, whereas similar but less severe lesions are found in the cerebellar white matter myokymia reported in malinois In humans, the presence of residual channel function or compensatory mechanisms in certain organs have been shown to contribute to this phenotypic heterogeneity within KCNJ10 variants. could be influenced by an another variant
38
gene associated with leucodystrophy in german sheperd
aspartoacylase
39
breeds affectred by hypo/dysmyelination + mutations
Samoyeds Bernese Mountain dogs Welsh Springer Spaniels (PLP1) Weimaraners (FNIP2) Lurcher dogs Chow-Chows
40
mutation associated with polymyositis in dutch sheperd dog
SLC25A12 mitochondrial aspartate-glutamate transporter proinflammatory milieu and strong support for oxidative stress
41
breeds for granuloprival cerebellar degeneration
Yorkshire Terrier **Lagotto Romagnolo** Border Collie **Labrador Retriever** Bavarian Mountain dog **Coton de Tulear**
42
leucodystrophy in human
In human medicine, spongy leukodystrophy (also known as **Canavan** disease) is characterized by diffuse symmetrical WM spongy degeneration with prominent early involvement of subcortical U fibers and is caused by mutations in the **aspartoacylase (ASPA) gene**.

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