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Neurology > Storage Disorders > Flashcards

Storage Disorders Flashcards

1
Q

GM1 gangliosidosis type I:

  • Enzyme deficiency and stored product?
  • Species and breeds (4)
  • Age at onset of clinical signs?
A

GM1 gangliosidosis type 1

  • Enzyme deficiency = B-galactosidase
  • stored product = ganglioside
  • Beagle cross - 3m
  • Portugese water dog 5m
  • Domestic cat 2-3m
  • Fresian cattle 1m
  • English Springer Spaniel

Skeletal abnormalities and widened intervertebral disc spaces (English Springer Spaniels and PWD)

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2
Q

GM1 gangliositosis type 2:

Enzyme deficiency and stored product?

Species and breeds (4)

Age at onset of clinical signs?

Skeletal abnormalities?

A

GM1 gangliosidosis type 2:

B galactosidase enzyme deficiency

Siamese, Portugese water dog, Korat and domestic cat: 2-3m

Suffolk sheep 4m

Skeletal abnormalities and widened intervertebral disc spaces (English Springer Spaniels and PWD)

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3
Q

GM2 gangliosidosis (types 1, 2, 3)

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

A
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4
Q

Glucocerebrosidosis:

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

A

Glucocerebrodisosis

Enzyme deficiency = B-glucosidase

stored product = glucocerebroside

Breeds: Sydney silky and Abyssinian cat (6-8m)

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5
Q

Sphingomyelinosis:

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

Pathologic lesions?

A

Sphingomyelinosis = Niemann Pick disease

enzyme deficiency = sphingomyelinase

stored product = sphingomyelin

Breeds: Siamese, Balinese, domestic cat (2-4m), Poodle 2-4m

Lesions: PNS affected

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6
Q

Globoid Cell Leukodystrophy

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

Pathologic lesions?

A

globoid cell leukodystrophy

Enzyme deficiency: Galacrocerebrosidase (galactosylceramidase 1)

Stored product: Galactocerebroside (psychosine = galactosylsphingosine)

Breeds:

  • Carin terrier 2-5m
  • West Highland White Terrier, Beagle, Blue Tick Coonhound 4m
  • Miniature Poodle 2y
  • Basset Hound 1.5 - 2y
  • Pomeranian dog 1.5y
  • Domestic cat 5-6 weeks
  • Polled Dorset Sheep 4-18m

Marked degeneration and loss of white matter in the cord and brain
Perivascular accumulation of globoid cells
PNS lesions common

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7
Q

Mucopolysaccharidosis

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

Skeletal abnormalities?

A

Mucopolysaccharidosis

Enzyme deficiency: Arylsulfatase B and alpha-Iduronidase

Stored product: Mucopolysaccharide

Breeds:

  • Siamese, domestic cat 4-7m
  • Domestic cat 10m
  • Plott Hound 3-6m
  • Miniature Pinscher 6m
  • Mixed-breed dog 4-6m

Craniofacial malformation, joint immobility

PL paresis secondary to bony vertebral growths that compress the spinal cord

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8
Q

Glycoproteinosis

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

A

Glycoproteinosis

Enzyme deficiency and stored product = unknown

Breeds: Beagle, Basset hound, Poodle 5m - 9y

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9
Q

Mannosidosis (alpha and beta)

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

A

Mannosidosis

Enzyme deficiency: alpha-mannosidase or beta mannosidase

Stored product: Mannoside (in both alpha ane beta)

Breeds:

  • Alpha mannosidase: Domestic cat 7m, Persian cat 2m; Angus, Murray grey, Galloway and Holstein cattle (at birth); Horses and farm animals (at birth) ; Grazing species of Swainsona (at birth)
  • Beta mannosidase: Nubian goat (Birth - 1y), Salers calf (at birth)
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10
Q

Glycogenosis

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

A

Glycogenosis

Enzyme deficiency: alpha-glucosidase

Stored product: glucoside

Lapland dog (1.5y)

English springer spaniel (11y)

Domestic cat, Norwegian forest cat (5m)

Corriedale sheep (6m)

Short horn, Brahman cattle (3-9m)

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11
Q

Fucosidosis

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

Clinical signs?

Pathology?

A

Fucosidosis

  • Enzyme deficiency: alpha fucosidase
  • Stored product: fucoside
  • Springer Spaniel (2y) - older age is unique feature
  • Forebrain dysfunction, progresses over 2-3 years to include signs of ataxia, dysphagia, vision and hearing loss, nystagmus, and dysphonia
  • Enlargement of the ULNAR nerves is often palpable - edema and infiltration of the nerves with lipid filled phagocytes/Schwann cells
    • Also ganglionic thickening
  • Wide-spread vacuolation of neurons and glia throughout the brain
    • PNS lesions common
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12
Q

Ceroid lipofuscinosis

Enzyme deficiency and stored product?

Species and breeds

Age at onset of clinical signs?

A

Autofluorescent pigment is stored in neurons and other cells of the body

Most common breeds: Pit Bull Terriers, Staffordshire Terriers, Irish Setters

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13
Q

In which lysosomal storage diseases are cerebellar dysfunction the initial clinical signs? (5)

In which diseases are forebrain signs the initial clinical signs? (

A

Cerebellar dysfunction:

  1. Mannosidosis
  2. Gangliosidosis
  3. Globoid cell leukodystrophy
  4. Glucocerebrosidosis
  5. Sphingomyelinosis

Forebrain dysfunction

  1. Neuronal glycoproteinosis (Lafora’s disease)
  2. Ceroid Lipofuscinosis
  3. Fucosidosis

(Dewey)

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14
Q

Which 2 lysosomal storage diseases are unique in their later onset in life?

A

Ceroid lipofuscinosis

  • Behavior changes, visual deficits 1-2y old, progresses to seizures, ataxia, tremors, hypermetric gait
  • A form of CL that selectively involves neurons in the cerebellum and thalamus of adult dogs has been described - progressive cerebellar dysfunction

Fucosidosis

  • 12-18 mos of forebrain dysfunction progressive over 2-3y
  • ataxia, dysphagia, vision and hearing loss, nystagmus, dysphonia
  • Enlargement of the ULNAR nerves is often palpable (edema and infiltration of the nerves with lipid-filled phagocytes and Schwann cells)

(Dewey)

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15
Q

Storage disease that has later onset, clinical signs of:

  • Behavior changes, visual deficits
  • Progresses over 1-several years to include seizures, ataxia, tremors, hypermetric gait
  • Gene mutations?
A

Ceroid lipofuscinosis

  • Accumulation of autofluorescent lipofuscin pigment-like material (characteristic ultrastructural lamellar profiles) in NEURONS and other cells of the body –> degeneration
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16
Q

Gene mutations identified leading to neuronal Ceroid lipofuscinosis?

A
  • TPP1 gene frameshift identified in Miniature Dachshunds (CLN 2 deficiency)
  • CLN8 mutation in English Setters
  • CLN5 deficiency in Border Collie
  • Cathepsin D mutation in American Bulldog
  • ATP13A2 mutation in Tibetan Terriers (late onset)
  • Arylsulfatase G mutation –> sulfatase deficiency (lysosomal enzyme) in Staffordshire Terriers
  • ** unclear if NCL is a lysosomal storage disease, may be a mitochondrial disease

(Vanvelde)

17
Q

In american staffordshire terriers and crosses, NCL storage primarily affects _________ cells and certain __________ nuclei

A

Purkinje cells and thalamic nuclei –> thalamic and cerebellar atrophy

(Vanvelde)

18
Q

Which 4 lysosomal storage diseases involve skeletal abnormalities

A

Craniofacial malformations, joint immobility

  • Mannosidosis
  • Mucopolysaccharidoses
  • Mucolipidosis II

Mucopolysaccharidoses + mucolipidosis II - PL paresis often develops due to impingement of the spinal cord by bony vertebral growths

Skeletal abnormalities and widened intervertebral disc spaces

  • Gangliosidosis of English Springer Spaniels and Portugese water dogs
  • Dwarfism associated with gangliosidosis has been described in English Springer Spaniels

(Dewey)

19
Q

Which storage diseases affect the PNS? (4)

A
  1. Fucosidosis
    • Genes necessary for normal myelin assembly are down-regulated
  2. Globoid cell leukodystrophy
  3. Glycogenoses
    • Myopathy
  4. Sphingomyelinosis (Niemann-Pick disease)

Dewey

20
Q

In which LSD has generalized seizures, obtundation, tremors and weakness associated with hypoglycemia been reported?

A

Glycogenosis type Ia

Glucose-6 phosphate deficiency

Maltese

(Dewey)

21
Q

In which LSD do cats have an increased risk for developing meningioma?

A

Mucopolysaccharidosis type I

alpha-L-iduronidase deficiency

(Dewey)

22
Q

Ocular abnormalities with lysosomal storage disease

Corneal abnormalities? (3)

Retinal degeneration(2)

Cardiac abnormalities with lysosomal storage disease? (1)

A

Corneal abnormalities

  • Gangliosidosis of cats
  • Mannosidosis of cats
  • Mucopolysaccharidosis type VII in dogs

Retinal degeneration

  • Ceroid lipofuscinosis (Tibetan Terrier, Miniature Schnauzer, Cocker Spaniel)
  • Cats with mucolipidosis II

Cardiac abnormalities - glycogenosis

23
Q

Diagnosis of lysosomal storage disease?

A
  • Tentative diagnosis based on progressive multifocal/diffuse encephalopathy in a young animal (especially susceptible breed)
  • CSF analysis usually normal, may reveal increased protein with a normal cell count
  • CT/MRI - ventriculomegaly, brain atrophy, abnormal brain tissue density
    • GM1 with sequential brain MRI - diffuse cerebral white matter hyperintensity on T2 weighted and FLAIR images in addition to brain atrophy later in the disease course
  • Definitive diagnosis is made by
    • Identification of the storage product and/or demonstrating the presence of the defective gene responsible for the disease
    • Whole blood leukocytes, tissue biopsy samples (liver), cultured fibroblasts can be used to demonstrate storage material and assay deficient lysosomal enzyme activity
    • Mannosidosis, mucopolysaccharidosis, fucosidosis - accumulated storage product can be identified in urine using specific assays

(Dewey)

24
Q

IV/intrathecal recombinant enzyme replacement therapy has been used to treat which lysosomal storage diseases?

Intrathecal or intraparenchmal therapy for lysosomal storage disease with viral vector has been done with which disease?

Oral treatment of which lysosomal storage disease has been successful?

A

IV/intrathecal recombinant enzyme replacement therapy

  • Canine fucosidosis + Mucopolysaccharidosis I and IIIA
  • Feline mucopolysaccharidosis type VI

Intrathecal or intraparenchmal therapy with viral vector

  1. Feline alpha-mannosidosis
  2. Canine mucopolysaccharidosis I and IIIB

Oral treatment - cats with Niemann-Pick disease type C with imino sugar called miglusat - delayed onset of neurologic signs, increased lifespan, decreased accumulation of gangliosides GM 2 in neurons and prolonged Purkinje survival

(Dewey)

25
Q

3-4 mos old dog with progressive:

  • Tremors, ataxia, dysmetria, paresis/paralysis, visual impairment, cognitive impairment
  • Possible cause?
  • MRI findings?
A

Globoid-cell leukodystrophy

MRI

  • Diffuse, symmetric white matter disease
    • Increased T1 hyperintensity of the corpus callosum, centrum semiovale, internal capsule, corona radiata, cerebellar white matter
    • Decreased T2 intensity of thalamus and caudate nucleus
    • Mild hydrocephalus
    • Symmetric contrast-enhancement of the corpus callosum, internal capsule, corona radiata
26
Q

Lysosomal storage disease reported in:

  • Cats
  • Shiba Inu
  • Alaskan Huskies
  • Portugese water dogs
  • English Springer Spaniels
  • Mixed breed dogs

Clinical signs start at 4-5 mos of age and consist of:

  • Progressive tremors, muscle weakness, ataxia, eventually inability to stand

What are the MRI findings?

A

GM1 gangliosidosis - accumlation of ganglioside in neurons

MRI:

  • Increase in gray matter, thinning of the white matter
  • Abnormal signal intensity of cerebral and cerebellar white matter on T2W images
  • Diffuse T2 hyperintensity of the cerebral white matter and brain atrophy
  • Absent, partially missing, or small corpus callosum and rostral commissure
    • It has been suggested that hypoplasia of the corpus callosum on midline sagittal images may be a useful indicator of lysosomal storage disease

(Mai)

27
Q

Lysosomal storage disease that presents in:

  • Korat and DSH cat @ 2-3 weeks with head tremors, cerebellar, mentation and spinal reflex abnormalities
  • Golden Retriever and Toy Poodle @ 9-12 mos with motor disorders, tremors, depression, ataxia, blindness

What is the disease and what are the MRI findings?

A

GM2 gangliosidosis - abnormal accumulation of ganglioside

  • Diffuse T2 hyperintensity and T1 hypointensity of the subcortical cerebral white matter
  • Bilaterally symmetric T2 hyperintensity and T1 hypointensity of the caudate nucleus without contrast enhancement
  • Cerebral and cerebellar atrophy of variable severity
  • Absent, partially missing or small corpus callosum and rostral commissure

(Mai)

28
Q

Lysosomal storage of dogs that results in:

  • Enlargement of internal organs, cardiac valvlar disease, arteriosclerotic-like lesions in lg blood vessels, umbilical hernias, corneal clouding, bony deformities
  • MRI findings?
A

MPS I

MRI (reported in a Plott hound colony)

  • Cerebral ventricular enlargement and cortical atrophy at 12 mos of age
  • Abnormally small corpus callosum

(Mai)

29
Q

____________ describes varying degrees of brain damage secondary to deposition of bilirubin in the gray matter of the brain (especially basal ganglia) and spinal cord, accompanied by nerve cell degeneration

What are the MRI findings? (3)

A

Kernicterus

MRI findings

  1. Bilaterally symmetric T2 and T2 FLAIR hyperintensity of the:
    • Thalamus
    • Lateral and medial geniculate nuclei
    • Caudate nuclei
    • Regions of other basal nuclei
    • Deep cerebellar nuclei
    • Cerebral cortical gray matter
  2. Slight increases in T2 signal intensity in regions of subthalamic nuclei, substantia nigra, and hippocampus
  3. Mild T1 hyperintensity of the:
    • Caudate nuclei
    • Region of the globus pallidus
    • Deep cerebellar nuclei
    • No evidence of contrast enhancement

(Mai)

30
Q

3 glycoproteinoses?

A
  1. Fucosidosis
  2. Mannosidosis
  3. Galactosialidosis

(Vanvelde)

31
Q

5 Sphingolipidoses?

A
  1. GM1 gangliosidosis
  2. GM2 gangliosidosis
  3. Globoid-cell leukodystrophy
  4. Gaucher’s disease
  5. Niemann-Pick disease

(Vanvelde)

32
Q

5 Mucopolysaccharidoses?

A
  1. MPS I (Hurler)
  2. MPS II (Hunter)
  3. MPS III (San Filippo)
  4. MPS VI (Maroteaux-lamy)
  5. MPS VII (Sly)

(Vanvelde)

33
Q

What are the 6 Glycogenoses (oligosaccharidoses)

A
  1. Type Ia (von Gierke)
  2. Type II (Pompe)
  3. Type III (Cori)
  4. Type IIIa
  5. Type IV (Anderson)
  6. Type VII

(Vanvelde)

34
Q

What is the one proteinoses

A

Ceroid-lipofuscinosis

(Vanvelde)

35
Q

Tibetian Terrier - what is the disease?

A

Ceroid lipofuscinosis

A: MRI. A T2W transverse image of cerebral atrophy associated with neuronal ceroid lipofuscinosis with marked distension of sulci filled with CSF and dilated ventricles from the brain atrophy. B: Dog. Dachshund. Swollen neurons in hippocampus. HE. C: Autofluorescence of ceroid lipofuscin storage material in hippocampal neurons. UV emission.

(Vanvelde)

36
Q

Basset Hound thalamus - what is the disease?

A

Lafora Disease

  • Accumulation of polyglucosan as small and large inclusions in neuronal cell bodies and dendrites
  • Inherited in Beagles, Basset Hounds, Miniature rough-coated dachshunds
  • In dachshunds - genetic defect identified as first triplet repeat disorder to be discovered in domestic animals
  • Clinical signs start late in life with myoclonic epilepsy
  • Neuronal inclusions have characteristic morphology - diagnosis from HE microscopy
    • Polyglucosan bodies are sometimes found in the brain of aging dogs and cats not associated with Lafora’s disease

(Vanvelde)

37
Q
A

Neurology (12 decks)

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