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NMSP Exam I > Demyelinating Diseases (Martin) > Flashcards

Demyelinating Diseases (Martin) Flashcards

1
Q

Multiple sclerosis (MS)

A

autoimmune demyelinating disorder of white matter with relapsing and remitting episodes of variable duration; symptoms are separated in time and space;

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2
Q

What are the genetic factors associated with multiple sclerosis (MS)?

A

DR2 and IL-2 and IL-7

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3
Q

Histology of a patient with multiple sclerosis (MS) in the active plaque phase?

A

foamy macrophages that contain lipid rich PAS+ debris; preservation of axons of oligodendrocytes

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4
Q

CSF examination finding for a patient with multiple sclerosis (MS)?

A

elevated IgG (oligoclonal IgG bands - gamma region)
mildly elevated proteins
pleocytosis

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5
Q

Neuromyelitis optica (NMO)

A

AKA Devic’s Disease
bilateral optic neuritis and spinal cord demyelination; antibody against aquaporins; treatment with plasmapheresis

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6
Q

What is the antibody in Neuromyelitis optica (NMO)?

A

against aquaporins

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7
Q

What is the treatment for Neuromyelitis optica (NMO)?

A

Plasmapheresis; to decrease the antibody burden

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8
Q

Acute Disseminated Encephalomyelitis (ADEM)

A

diffuse monophonic demyelinating disease that follows a viral infection (or viral immunization); patients present with headache, lethargy and coma (20%) die

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9
Q

What do patients with Acute Disseminated Encephalomyelitis (ADEM) typically present with?

A

headache, lethargy and coma (20%) die

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10
Q

Acute Disseminated Encephalomyelitis (ADEM) typically following what kind of infection?

A

a viral infection or viral immunization

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11
Q

Central Pontine Myelinolysis

A

AKA Osmotic demyelination syndrome
loss of myelin WITHOUT inflammation; present with “locked in syndrome” (acute paralysis, dysphagia and loss of consciousness); 2-6 days after rapid correction of hyponatremia

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12
Q

Overcorrection of what electrolyte imbalance can lead to Central Pontine Myelinolysis?

A

hyponatremia

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13
Q

disease characterized by trinucleotide glutamate repeats that form a mutated protein

A

Huntington’s Disease

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14
Q

disease characterized by an accumulation of AB plques and tangles

A

Alzheimer’s Disease

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15
Q

Alzheimer’s Disease

A

AD; common cause of dementia; global cortical atrophy (predominately the parietal lobes); will develop hydrocephalus ex vacuo (filling up the empty space); deposition of amyloid plaques and neurofibrillary tangles

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16
Q

What is the most common cause of dementia in the elderly?

A

Alzheimer’s Disease

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17
Q

Which lobes is predominately affected in Alzheimer’s disease?

A

the parietal lobes

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18
Q

Deposition of what is characteristically significant in Alzheimer’s disease?

A

amyloid plaques and neurofibrillary tangles

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19
Q

Tangles are aggregates of which protein?

A

tau

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20
Q

amyloid plaques are aggregates of which peptide?

A

alpha-beta peptides derived from the amyloid precursor protein (APP)

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21
Q

Histology of neuritic (senile) plaques?

A

amyloid core - seen on a congo red stain (different from APP)

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22
Q

Histology of diffuse plaques?

A

no amyloid core (differentiate from neuritic plaques)

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23
Q

Tangles or plaques correlate better with degree of dementia a patient is experiencing?

A

number of tangles (more tangles = more severe)

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24
Q

Histology of AD?

A

amyloid plaques and neurofibrillary tangles and Hirano bodies - glassy eosinophilic bodies (actin)

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25
Q

Hirano bodies

A

seen in Alzheimer’s disease; elongated glassy eosinophilic bodies made predominately of actin

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26
Q

Frontotemporal Lobar Degenerations (FTLDS)

A

tau inclusions (no alpha-beta plaques); most common disorder is Pick Disease - progressive dementia involving the frontal and temporal lobes only

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27
Q

Pick Disease

A

a type of Frontotemporal Lobar Degenerations (FTLDS); early onset with alterations in personality (frontal lobes) and language (temporal) with sparing of the posterior 2/3 of superior temporal temporal gyrus; “knife-edge” thin gyri

28
Q

Which gyri of the temporal lobes is spared in Pick Disease?

A

posterior 2/3rds of superior temporal gyrus

29
Q

“knife-edge” thin gyri is characteristic for which pathology?

A

Pick Disease

30
Q

Progressive Supranuclear palsy (PSP)

A

akinetic rigid syndrome (slow and stiff); progressive truncal rigidly; common in men; fatal within 5-7 years of onset; has widespread neuronal loss

31
Q

What is the clinical syndrome of Pakinsonism?

A

Diminished facial expression “masked facies”
Slowness
Festinating gait
Rigidity
“pill-rolling” tremor (resting)

32
Q

Parkinson Disease (PD)

A

AD with alpha synuclein accumulation and mut on chromosome 4q21; loss of dopaminergic neurons in the substantial nigra; responsive to L-deopa;

33
Q

patients with Parkinson’s disease have an accumulation of what?

A

alpha synuclein

34
Q

Where is the mutation in a patient with Parkinson’s disease that encodes alpha synuclein?

A

chromosome 4q21

35
Q

patients with juvenile Parkinson’s disease have what mutation?

A

AR with mutations in PARKIN

36
Q

Which mutation is the most common cause of AD Parkinson’s disease?

A

LRRK2

37
Q

Dementia with leeway bodies

A
  1. dementia develops first (before and PD signs)
  2. both dementia and movement symptoms are present at time of diagnosis
  3. dementia symptoms appear within one year after movement symptoms
38
Q

Corticobasal degeneration (CBD)

A

akinetic rigid syndrome with progressive taupathy - tau will be positive in gray and white matter; will see cognitive decline

39
Q

What is the most specific pathological finding in CBD?

A

tau-positive threads in gray and white matter

40
Q

Multiple system atrophy (MSA)

A

sporadic disorder with alpha-synuclein inclusions in oligodendrocytes; triad -
1. striatonigral circuit (Parkinsonism)
2. ataxia
3. autonomic dysfunction (orthostatic hypotension)

41
Q

Huntington Disease (HD)

A

AD movement disorder and dementia; jerky hyperkinetic movement (chorea); polyglutamine trinucleotide (CAG) repeats chromosome 4p16.3 encoding the GOF Huntington protein;

42
Q

Disease that has CAG repeats

A

Huntington Disease (HD)

43
Q

Genetic inheritance of Huntington Disease (HD)?

A

AD; (CAG) repeats chromosome 4p16.3 encoding the GOF Huntington protein

44
Q

How does paternal transmission play a significant role in Huntington’s disease?

A

Anticipation; spermatogenesis leads to an earlier onset via paternal transmission

45
Q

Which part of the part is most severely impacted in Huntington’s disease?

A

the caudate nucleus

46
Q

Friedrich’s Ataxia

A

AR with GAA trinucleotide repeats on chromosome 9q13 encoding the Frataxin protein; progressive ataxia, weakness and COD usually due to cardiomyopathy

47
Q

What is the inheritance of Friedrich’s ataxia?

A

AR with GAA trinucleotide repeats on chromosome 9q13 encoding the Frataxin protein

48
Q

What is the typically cause of death of someone with Friedrich’s ataxia?

A

cardiomyopathy

49
Q

Ataxia-Telangiectasia

A

AR syndrome with mutated ATM gene on chromosome 11q22-q23 that begins in childhood; triad
1. telangiectasia
2. ataxia
3. immunodeficiency

50
Q

Amyotrophic lateral sclerosis (ALS)

A

loss of both upper and lower motor neurons; begins in the 50s; neurons contain Bunina bodies (PAS+ inclusions); patient will report of dropping objects (muscle weakness) and cramping of arms and legs

51
Q

“Bunina bodies” are typically seen in which disorder?

A

Amyotrophic lateral sclerosis (ALS)

52
Q

Patient is in her 50s and complains of sudden habit of dropping of items and experiences muscle weakness in arms and legs, what should you suspect?

A

Amyotrophic lateral sclerosis (ALS)

53
Q

Kid is perfectly fine until 1 yrs old and presents with deficiency of Hexosaminidase A and accumulation of GM2 gangliosides

A

Tay-Sachs; cherry red spot in maculae

54
Q

Tay-Sachs

A

Hex A gene on chr 15; deficiency of Hexosaminidase A and accumulation of GM2 gangliosides; kid is perfectly fine until 1 yrs old; cherry red spot in maculae

55
Q

Krabbe disease

A

deficiency in galactocerebroside B-galactosidase; rapidly progressive; onset 3-6 months and death by 2 yrs; loss of myelin and oligodendroglia; will see aggregation of macrophages “globoid cells”

56
Q

Disease with unique diagnostic feature of “globoid cells”

A

Krabbe disease; deficiency in galactocerebroside B-galactosidase; onset 3-6 months and death by 2 yrs

57
Q

Metachromatic Leukodystrophy

A

AR on chromosome 22q; deficiency in arylsulfatase A; accumulation of Cerebroside sulfate; motor symptoms death 5-10 years

58
Q

Adrenoleuodystrophy

A

x-linked rec ABCD1 gene; loss of myelin, gloss and lymphocytic infiltration; young boy who presents with behavioral changes and adrenal insufficiency

59
Q

A young boy who presents with behavioral changes and adrenal insufficiency should make you suspect which disorder?

A

Adrenoleuodystrophy; x-linked rec ABCD1 gene

60
Q

Disease with x-linked rec inheritance and mutation on the ABCD1 gene?

A

Adrenoleuodystrophy; loss of myelin, gloss and lymphocytic infiltration; young boy who presents with behavioral changes and adrenal insufficiency

61
Q

“Tigroid pattern”

A

Pelizaeus-Merzbacher disease; x linked invariably fatal leukodystrophy

62
Q

What is the inheritance of mitochondrial encephalopathies?

A

inheritance only through maternal lines (mom gives to all offspring)

63
Q

What are the 4 pathologies with the mitochondrial inheritance pattern?

A
  1. Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes (MELAS)
  2. Myoclonic Epilepsy & Ragged Red Fibers (MERRF)
  3. Leigh Syndrome
  4. Kearn-Sayre Syndrome
64
Q

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes (MELAS)

A

most common disease caused by mitochondrial inheritance pattern; mut MTTL1; muscle involvement and lactic acidosis; stroke-like episodes that do NOT correspond with specific vascular territories

65
Q

Myoclonic Epilepsy & Ragged Red Fibers (MERRF)

A

mitochondrial inheritance pattern; myoclonus, seizure disorder and evidence of myopathy; ragged red fibers on histology

66
Q

Leigh Syndrome

A

mitochondrial inheritance pattern; lactic acidemia, seizures and hypotonia; death within 1-2 years; brain will have spongiform appearance with vascular proliferation

67
Q

Kearn-Sayre Syndrome

A

mitochondrial inheritance pattern; ataxia, pigmentary retinopathy and cardiac conduction defects

NMSP Exam I (18 decks)

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