Degenerative path Flashcards

1
Q

What is a common theme of degenerative neuro disease?

A

protein aggregates that are resistant to degradation via the ubiquitin-proteasome system

histologically recognized as cellular inclusions

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2
Q

What is the MC type of AD?

A

sporadic late onset type

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3
Q

What are the three stages of AD?

A
  • early - insidious impairment of higher intellectual fx, alterations in mood and behavior
  • later - progressive disorientations, memory loss, loss of math skills and learned motor skills, aphasia
  • final - develop profound disability, may become incontinent, mute and or unable to walk
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4
Q

What are the two main processes of AD?

A
  • extracellular deposition of amyloid Abeta
    • senile plaques
  • intracellular accumulation of tau protein
    • neurofibrillary tangles
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5
Q

this H&E stain shows…

A

senile plaques

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6
Q

What are we looking at?

A

beta amyloid immunostain

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7
Q

What are we looking at?

A

neurofibrilary tangles - flame shape or globose tangles

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8
Q

What are we looking at?

A

NFT on Bielschowsky stain, commonly found in cortical and other neurons

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9
Q

What is seen in about 90% of AD?

this increases the risk of infarcts and leukoencephalopathy

A

cerebral amyloid angiopathy

  • deposition of Abeta amyloid in the walls of small vessels of the brain results in narrowing of the lumen and loss of smooth muscle
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10
Q

What is this called? What disease is it seen in?

A

walnut brain

Pick Disease

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11
Q

In AD, when there is compensatory ventricular enlargement after cortical atrophy, this is called…

A

hydrocephalus ex vacuo

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12
Q

What is the prototypical frontotemporal lobar degenerative tauopathy?

What are associations with it?

A

Pick Disease

‘knife-blade’ atrophy of frontal and temporal lobes (walnut brain), which may be asymmetrical

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13
Q

What do I see microscopically in Pick Disease?

A
  • Pick cells (left) - ballooned neurons with dissolution of chromatin
  • Pick bodies (right) - tau-positive spherical cytoplasmic inclusions in neuron cell bodies
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14
Q

The pathogenesis of PD is…

A

accumulation and aggregation of alpha synuclein

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15
Q

What is the diagnostic hallmark of PD?

What are they immunoreactive for?

A

Lewy bodies

ubiquitin and alpha-synuclein

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16
Q

combo PD and dementia

fluctuating attention and cognition, hallucinations

depression, sleep disorder, and autonomic dysfunction

A

Diffuse Lewy Body Disease (DLBD)

17
Q

What are we looking at?

A

DLBD

  • sporadic disorder
  • brain atrophy, but not as severe as AD
  • small inconspicuous Lewy bodies seen throughout the brain
  • A large portion of DLBD pts also have AD pathology
18
Q

What genetics go along with huntington’s disease?

A

autosomal dominant - 100% penetrance

HD gene on 4p16.3 encodes huntington protein

CAG repeat on first exon

higher number of repeats a/w earlier age of development

19
Q

What do we see?

A

Left - gliosis of HD

right - normal brain

20
Q

On gross morphology of HD, what do we see?

A

striking atrophy of the caudate nucleus and less so the putamen

small brain, dilation of ventricles

21
Q

What is the MC form of inherited ataxia?

A

Friedreich Ataxia (FRDA)

22
Q

How does FRDA begin and what is usually the cause of death?

A

begins in first decade of life with gait ataxia, followed by hand clumsiness and dysarthria

most people die of cardiomyopathy

23
Q

beginning in early childhood and caused by neuronal degeneration, predominately in the cerebellum

a/w development of telangiectasias in the conjunctiva and skin, and immunodeficiency

A

Ataxia-telangiectasia

24
Q

What is a big clue to dx ALS?

A

both upper and lower motor neuron ssx

25
Q

What are early ssx of ALS?

A

asymmetric weakness of hands, manifested as dropping objects and difficulty performing fine motor tasks, cramping and spasticity of arms and legs

26
Q

How would you dx ALS?

A

clinical picture, electrodiagnostic findings, and muscle biopsy results