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2. Neuro exam 2 > Martin: Demyelinating/Neurodegenerative Diseases/Toxic and Acquired Metabolic Diseases > Flashcards

Martin: Demyelinating/Neurodegenerative Diseases/Toxic and Acquired Metabolic Diseases Flashcards

1
Q

Demyelinating diseases of the CNS are acquired conditions characterized by preferential damage to ________ w/ relative preservation of ______.

A

Demyelinating diseases of the CNS are acquired conditions characterized by preferential damage to myelin w/ relative preservation of axons.

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2
Q

Which disease is characterized by distinct episodes of neuro deficits separated in time due to white matter lesion that are separated in space

A

Multiple Sclerosis

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3
Q

Which MHC halotype increases risk for developing MS?

A

HLA-DR2

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4
Q

Which T cells are the major players in causing damage to the myelin in persons w/ MS?

A

CD4+ TH1 and TH17

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5
Q

Which demyelinating disease is associated with lesions that are firmer than the surrounding white matter and contain circumscribed, depressed, glassy, grey-tan, irregularly shaped plaques?

A

MS

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6
Q

What is seen morphologically in an active plaque of a patient with MS?

A
  • Abundant macrophagescontaininglipid-rich, PAS-positive debris
  • Perivascular (small veins) inflammatory infiltrate (mononuclear) at outer edge of plaqe
  • Relative preservation of axons within plaque and depletion of oligodendrocytes
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7
Q

A 40 yo woman who presents with chief complaint of unilateral disturbance should raise red flags for which disease until proven otherwise?

A

MS

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8
Q

What is a frequent initial manifestation of MS?

A

Unilateral visual disturbances due to involvement of the optic nerve (optic neuritis, retrobulbar neuritis)

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9
Q

The mnemonic for MS is SINS, what are each of these clinical findings?

A

S = scanning speech

I = intention tremor (incontinence and INO)

N = nystagmus

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10
Q

Which Ig is found in increased levels in the CSF of patients with MS?

What is seen on immunoelectrophoresis?

A
  • IgG
  • Oligoclonal IgG bands
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11
Q

Infarction of which artery is associated with contralateral homonymous hemianopia?

A

Posterior Cerebral Artery

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12
Q

Infarction of which artery is associated with UMN-type weakness and cortical-type sensory loss; contralateral hemiplegia initially?

A

Anterior Cerebral Artery (ACA)

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13
Q

Genes for which interleukin receptors have been associated with an increased risk in developing MS?

A

IL-2 and IL-7

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14
Q

What are the CSF findings in MS?

A
  • Midly elevated protein
  • Moderate pleocytosis in 1/3 cases
  • IgG increased
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15
Q

Which condition is characterize by synchronous bilateral optic neuritis and spinal cord demyelination?

A

Neuromyelitis optica (aka Devic disease)

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16
Q

Neuromyelitis optica is due to antibodies against?

Major channel of which cell?

A

Aquaporin-4; major water channel of astrocytes

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17
Q

What is commonly found in the CSF of patients with Neuromyelitis Optica?

A

White cells, often including neutrophils

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18
Q

Although similar to MS, how does Acute Disseminated Encephalomyelitis (ADEM) differ?

When does it occur and what are the clinical manifestations?

A
  • Occurs in younger patients w/ an abrupt onset and may be rapidly fatal
  • Is a DIFFUSE monophasic demyelinating disease occuring after a viral infection or viral immunization (rare)
  • Signs and symptoms develop 1-2 weeks after the antecedent infection as headache, lethargy, and coma
  • In contrast to MS, all of the lesions look similar – monophasic

*MS has focal findings w/ considerable variance in the size of lesions

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19
Q

Acute necrotizing hemorrhagic encephalomyelitis (AKA acute hemorrhagic leukoencephalitis of Weston Hurst) is almost invariable preceded by a recent episode of?

Who is most at risk?

A
  • Upper respiratory infection (URI)
  • Young adults and children
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20
Q

Central pontine myelinolysis (aka osmotic demyelination disorder) most commonly arises when?

A
  • 2-6 days after rapid correction of hyponatremia
  • Low to high, the pons will die
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21
Q

Which neurodegenerative disorder is characterized by loss of myelin in a roughly symmetric pattern involving the basis pontis and portions of the pontine tegmentum, including myelin loss WITHOUT evidence of inflammation?

A

Central pontine myelinolysis (aka osmotic demyelination disorder)

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22
Q

What is the clinical presentation of Central pontine myelinolysis (aka osmotic demyelination disorder)?

A
  • Rapidly evolving quadriplegia, which may be fatal
  • “Locked-in” syndrome, in which patients are fully conscious yet unresponsive
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23
Q

Which chromosome is the gene encoding APP located on and why is this significant?

A
  • Chromosome 21
  • Lies in the down syndrome region; patients with down syndrome usually develop Alzheimers around age 40
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24
Q

Generation of which peptide aggregates are the critical initiating event for the development of AD?

A

Aβ first and then tau

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25
Q

Plaques are deposits of aggregated ______ peptides in the _______

Tangles are aggregates of the ________ binding protein tau

A

Plaques are deposits of aggregated Aβ peptides in the neuropil

Tangles are aggregates of the microtubule binding protein tau

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26
Q

Which 3 diseases do Tau deposits appear in without the appearance of Aβ?

A

1) Frontotemporal lobar degeneration (Picks disease)
2) Progressive supranuclear palsy
3) Corticobasal degeneration

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27
Q

A higher number of (plaques/tangles) correlates better with the degree of dementia seen in AD?

A

Number of neurofibrillary tangles correlates better with the degree of dementia

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28
Q

What are the focal spherical collections of dilated tortous neuritic processes (dystrophic neurites) around an amyloid core seen in AD?

How are they stained?

A
  • Neuritic (senile) plaques
  • Amyloid core can be stained w/ congo red; dominant component of amyloid core = Aβ
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29
Q

Grossly how does the brain of a patient with AD look; where are the effects most pronounced?

Which compensatory change is seen?

A
  • Cortical atropy = widening of sulci, narrowing of gyri
  • Most pronounced in: frontal, temporal, and parietal lobes
  • Compensatory ventricular enlargement –> Hydrocephalus ex vacuo
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30
Q

Which parts of the brain will contain neuritic (senile) plaques associated w/ AD?

A

Hippocampus, amygdala, and neocortex

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31
Q

Diffuse plaques seen in AD have no _____ and are predominantly made up of Aβ____

A

Diffuse plaques seen in AD have no​ amyloid core and are predominantly made up of Aβ 42

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32
Q

Neurofibrillary tangles are seen best with which stain?

A

Bielschowsky stain (silver stain)

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33
Q

What are Hirano Bodies and what is their major component?

A
  • Elongated glassy eosinophilic bodies
  • Actin = major component
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34
Q

Cerebral amyloid angiopathy (CAA) is an almost invariable accompaniment of _______

A

AD

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35
Q

The vasuclar amyloid seen in CAA is predominantly of which type?

A

Aβ40 – use congo red stain to see amyloid

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36
Q

What is typically the terminal event in a patient with AD?

A

Intercurrent disease, often pneumonia

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37
Q

How are Frontaltemporal Lobar Degenerations (FTLDs) distinguished from AD in term of clinical manifestations?

A

Changes in personality, behavior, and language come BEFORE changes in memory

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38
Q

FTLDs are one of the more common causes of?

A

Early onset dementia

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39
Q

What is the characteristic pattern of atrophy seen in Pick disease?

A
  • Asymmetric, atrophy of the frontal and temporal lobes w/ sparing of the posterior 2/3 of superior temporal gyrus (AD is global)
  • Reduction of gyri to a wafer-thin (“knife-edge”) appearance
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40
Q

What are Pick Cells vs. Pick Bodies?

How do Pick bodies stain?

A
  • Pick cells = swollen cells
  • Pick bodies = cytoplasmic, round to oval, filamentous inclusions that are weakly basophilic and stain strongly with silver
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41
Q

Some patients with clinically diagnosed FTLD have inclusions that contain ______, but DO NOT contain Tau

A

TDP-43

42
Q

In the absence of a toxic or other known etiology the presumptive diagnosis of PD can be based on the presence of the central triad of parkinsonism, which includes?

How is this diagnosis confirmed?

A

1) Tremor
2) Rigidity
3) Bradykinesia
- Confirmed by symptomatic response to L-DOPA replacement therapy

43
Q

What is a characteristic morpological finding in the substantia nigra and locus ceruleus of patients with PD?

A

Pallor (loss of pigmentation) of the substantia nigra and locus ceruleus

44
Q

Clinical features of PD can be remembered with mnemonic TRAPS, which includes?

A

T = tremor (“pill rolling” tremor at rest)

R = rigidity

A = akinesia and bradykinesia

P = postural instability (stooped posture)

S = shuffling gait (festinating gait)

45
Q

First gene to be identified as a cause of autosomal dominant PD encodes _______

A

α-synuclein

46
Q

What is the diagnostic hallmark of PD and what is the major component of this diagnostic indicator?

A

Lewy body; major component is α-synuclein

Cytoplasmic, eosinophilic, round long inclusions with a dense core around a pale halo

47
Q

Single or multiple cytoplasmic, eosinophilic, round to elongated inclusions that often have a dense core surrounded by a pale halo describes what feature found in PD?

A

Lewy Bodies

48
Q

Dementia with Lewy Bodies has which characteristc features?

A
  • Fluctuating course (cognition/alertness)
  • Hallucinations
  • Prominent frontal signs

*HaLewycinations

49
Q

In dementia with lewy bodies there is depigmentation of the substantia nigra and locus ceruleus w/ relative preservation of which structures?

A

Cortex, hippocampus, and amygdala

50
Q

What is Progressive Supranuclear Palsy and when is it commonly seen?

What is the prognosis?

A
  • A Tauopathy (does not contain Aβ)

- Onset between 5th and 7th decades, with males 2x more affected

  • Often fatal within 5-7 years
51
Q

What are the clinical features of Progressive Supranuclear Palsy (PSP)?

A
  • Trunchal rigidity, disequilibrium w/ frequent falls and difficulty w/ voluntary eye movements
  • Also can have: nuchal dystonia, pseudobulbar palsy, and a mild progressive dementia
52
Q

What type of hydrocephalus may be seen with AD?

A

Hydrocephalus ex vacuo

53
Q

What 2 brain inclusions are associated with Parkinsons Disease?

A
  • Tau
  • α-synuclein
54
Q

Inclusions containing SOD1, TDP-43, and FUS are associated with that neurodegenerative disease?

A

ALS

55
Q

Which disease has a clinical pattern noted to be Parkinsonian w/ abnormal eye movements?

A

Progressive Supranuclear Palsy (PSP)

56
Q

The 2 loci identified as causes of the majority of early-onset familial AD encode what?

A

Presenilin-1 and Presenilin-2

57
Q

Multiple System Atophy (MSA) is characterized by cytoplasmic inclusions of ________ in oligodendrocytes (glial cells)

A

Multiple System Atophy (MSA) is characterized by cytoplasmic inclusions of α-synuclein in oligodendrocytes

58
Q

What are the 3 distinct neuroanatomic circuits commonly involved in MSA; what does disruption of each lead to?

A
  1. Striatonigral: parkinsonism
  2. Olivopontocerebellar: ataxia
  3. ANS: autonomic dysf. w/ orthostatic hypotension as prominent component
59
Q

What are the clinical feat of HD?

A
  • Auto dominant from trinucleotide repeat and anticipation (from dad)
  • Progressive movement disorder (chorea) & dementia
  • Cognitive changes due to neuronal loss in cortex
60
Q

What chromosome is the HTT gene encoding the protein huntingtin found on?

A

Chromosome 4p16.3

61
Q

Huntington Disease is the prototype of?

A

Polyglutamine trinucleotide repeat expansion diseases (CAG)

  • Has anticipation during spermatogenesism, so only with dad
62
Q

Repeat expansions of CAG associated with Huntington Disease occur when?

A

Spermatogenesis; paternal transmission associated w/ early onset in next generation

63
Q

In Huntington Disease there is striking atrophy of?

A

Caudate nucleus; globus pallidus may atrophy secondarily

64
Q

What is the age of onset most commonly seen with Huntington Disease?

A

Fourth and fifth decades (30-50 yo)

65
Q

Which 2 spinocerebellar degeneration disorders are Autosomal Recessive?

A
  1. Friedreich ataxia
  2. Ataxia Telangiectasia
66
Q

Friedreich ataxia is associated with what expansion?

A

GAA trinucleotide repeat of gene on chromosome 9q13 that encodes frataxin

67
Q

When is the onset of Friedreich Ataxia and how does it manifest?

How do the symptoms progress and what do most affected individuals develop?

A
  • First decade of life beginning with gait ataxia, followed by hand clumsiness and dysarthria
  • DTRs are depressed or absent, but extensor plantar reflex is typically present
  • Joint position and vibratory senses impaired
  • Most will develop pes cavus and kyphoscoliosis

- Cardiomyopathy later in life associated w/ arrhythmia and CHF

68
Q

How long do patients with Friedreich Ataxia live and what are common causes of death?

A
  • Most patients are wheelchair-bound within 5 years and live to about 40-50 yo
  • Intercurrent pulmonary infections and cardiac death = cause of death
69
Q

Which chromosome is the mutated ATM gene associated with Ataxia-Telangiectasia located on?

Function of this gene?

A
  • Chromosome 11q22-q23
  • Encodes kinase critical for repair of double-stranded DNA breaks
  • Fails to remove cells with DNA damage
70
Q

When is the onset of Ataxia-Telangiectasia?

What are the common symptoms?

A
  • Ataxic-dyskinetic syndrome beginning in early childhood w/ recurrent sinopulmonary infections and unsteadiness in walking
  • Later on, dysarthria and eye movement abnormalities
  • Subsequent development of telangiectasias in the conjunctiva and skin along w/ immunodeficiency
71
Q

What is the prognosis of Ataxia-Telangiectasia and how do most of these patients die?

A
  • Relentlessly progressive –> death early in second decade
  • Many develop lymphoid neoplasms (often T cell leukemias), gliomas, and carcinomas
72
Q

Progressive disease marked by loss of UMN in cerebral cortex and LMNs in spinal cord and brainstem w/ evidence of toxic protein accumulation

A

Amyotrophic lateral sclerosis (ALS)

73
Q

Which missense mutation and on what gene is the most common cause of ALS in the US?

A

A4V mutation of SOD1 on chromosome 21

74
Q

What is the age of onset for ALS and the earliest symptoms?

Symptoms progress to?

A
  • Asymmetric weakness of hands – dropping objects + difficulty performing fine motor tasks = 5th decade or later
  • Cramping + spasticity of the arms and legs
  • Fasciculations
  • Respiratory infections
75
Q

What are characteristic morphological findings on the spinal cord and brain in ALS?

A
  • Anterior roots are thin
  • Reduction in anterior horn neurons
  • Neurons have PAS + cytoplasmic inclusions (Bunina bodies)
76
Q

What do the remaining neurons in ALS contain?

A

PAS-positive cytoplasmic inclusions called Bunina bodies (remnants of autophagic vacuoles)

77
Q

What is progressive musclar atrophy vs. primary lateral sclerosis in terms of findings in patients w/ ALS?

A
  • Progressive muscular atrophy: applied to uncommon cases where LMN involvement predominates
  • Primary lateral sclerosis: cases where UMN involvement predominates
78
Q

What is progressive bulbar palsy (Bulbar ALS) associated with some patients with ALS?

Prognosis?

A
  • Some pts will have degeneration of the lower brainstem cranial motor nuclei occuring early and rapidly progessing
  • Problems with deglutination and phonation dominate; clinical course is inexorable during 1-2 year period; 50% alive at 2 years
79
Q

Which cerebral disease is ALS most often associated with?

A

FTLD; most often w/ TDP-43 inclusions

80
Q

What occurs in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)?

A
  • Episodes of acute neuro dysf., cognitive changes, and evidence of muscle involvement w/ weaknss and lactic acidosis
  • Stroke like episodes often associated w/ reversible deficits
81
Q

The most common mutation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) is in what?

A
  • tRNAs most prevalent mut
82
Q

What are the symptoms and classic findings in Myoclonic Epilepsy and Ragged Red Fibers (MERRF)?

A
  • Myoclonus, a seziure disorder, and evidence of myopathy
  • Ataxia due to neuronal loss in cerebellar system also common
  • Characterized by ragged red fibers on muscle biopsy
83
Q

When is the onset of Leigh syndrome and what are the common signs/symptoms?

A
  • Disease of infancy – mitochondrial encephalopathy
  • Poor psychomotor development
  • Lactic acidemia, feeding problems, SEIZURES, and weakness w/ hypotonia
84
Q

What is seen histologically in the brain tissue of an infant with Leigh Syndrome?

A
  • Multifocal regions of destruction to brain tissue
  • SPONGIFORM appearance w/ vascular proliferation
85
Q

What are the signs of Wernicke encephalopathy; caused by?

How can it be alleviated?

A
  • Thiamine (B1) deficiency
  • Acute; psychotic symptoms or opthalmoplegia
  • May reverse w/ Thiamine
86
Q

What is Korsakoff syndrome and the main signs/symptoms?

Is damage reversible?

Caused by?

A
  • Disturbances of short term memory and confabulation
  • Irreversible
  • Thiamine deficiency –> Chronic alcohol; also gastric disorders (carcinoma), chronic gastritis or persistent vomiting
87
Q

Wernicke encephalopathy is characterized by foci of hemorrhage and necrosis where?

With time there is infiltration by?

A

- Mammillary bodies and walls of the 3rd and 4th ventricles

  • Hemosiderin-laden macrophages
88
Q

B12 deficiency causes what?

A

- Subacute combined degeneration of the spinal cord –> defect in myelin formation

  • Degeneration of both ascending and descending spinal tracts
89
Q

What are the initial signs/symptoms of B12 deficiency?

A
  • Bilateral symmetrical numbness, tingling, and slight ataxia in the lower extremities
  • May progress to include spastic weakness of the lower extremities
90
Q

Glucose deprivation (hypoglycemia) initially causes selective injury to which areas of the brain?

A
  • Large pyramidal neurons of cerebellar cortex
  • Hippocampus; especially Sommer sector (CA1)
  • Purkinje cells of the cerebellum
  • If severe, PSEUDOLAMINAR necrosis of the cortex
91
Q

What occurs to someone suffering from clinical hyperglycemia and what precautions must be taken clinically?

A
  • Pt becomes dehydrated and develops confusion, stupor, and eventually coma
  • Fluid depletion must be corrected slowly; otherwise, severe cerebral edema may follow

*From high to low, the brain may blow!

92
Q

What type of response in the CNS accompanies hepatic encephalopathy?

Critical mediators?

Which cells appear in the basal ganglia and cerebral cortex?

A
  • Impaired liver function accompanied by glial response in the CNS
  • Mediators = ELEVATED ammonia levels as well as proinflammatory cytokines
  • Alzheimers type II cells
93
Q

Carbon monoxide poisoning causes selective injury to which areas of the CNS?

A
  • Layers III and V of the cerebral cortex
  • Sommer sector of hippocampus
  • Purkinje cells
  • BILATERAL NECROSIS of the globus pallidus may also occur
94
Q

Methanol toxicity preferentially damages what structure?

Which structures in brain may be damaged?

A
  • Retina
  • Degeneration of retinal ganglion cells may cause blindess
  • Selective bilateral necrosis of the putamen
95
Q

1% of chronic alcoholics will develop a clinical syndrome with what findings?

A
  • Truncal ataxia
  • Unsteady gait
  • Nystagmus

Bc of atrophy of anterior vermis == Bergman gliosis

96
Q

In chronic alcoholics who suffer from cerebellar dysfunction where is atrophy and loss of granule cells mainly seen?

A

Anterior vermis

97
Q

What is Bergmann gliosis and who is it seen in?

A
  • Advanced cases of chronic alcoholism
  • Loss of purkinje cells and proliferation of adjacent astrocytes = Bergmann gliosis
98
Q

What are the pathologic findings in the CNS following exposure to high doses of radiation (>10 Gy)

A
  • Large areas of coagulative necrosis, primairly in white matter, and adjacent edema
  • Vessels will have thickened walls w/ intramural fibrin-like material
99
Q

Radiation may induce tumors years after therpay, and include what 3 types?

A
  • Sarcomas
  • Gliomas
  • Meningiomas
100
Q

Tay-Sachs

A

Cherry red spot

Chromo 15

101
Q

Kear-Sayre Syndrome

A
102
Q

What are those?

A

Foci of hemorrhage & necrosis in the mamillary bodies – Wernicke’s encephalopathy

2. Neuro exam 2 (16 decks)

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