Flashcards in Week 7: Path-degenerative and demyelinating diseases Deck (13)
List the questions that should be asked in assessment, including laboratory and genetic tests, of a patient with possible Alzheimer disease, and the diagnostic utility of each.
1. neuro exam
2. mini mental status exam (normal 27+)
3. genetic test-ABO B gene
4. family hx
5. lab tests to rule out B12, e.g.
Name 3 histological hallmarks of Alzheimer disease and the key corresponding proteins correlated with disease pathogenesis
1. neurofibrillary tangles - tau
2. neuritic plaques - ABeta amayloid
Describe how Pick disease exemplifies the molecular mechanisms resulting in tauopathies; especially the effects of alternative splicing of tau mRNA
-causes abnormal tau
-they aggregate in cytoplasm of neurons and cause inclusions
-occur in frontotemporal area
Define the effects of extended triple codon repeats on the pathogenesis of Huntington disease.
The more repeats the more accelerated the disease. Occurs earlier and more severely.
Define the neuronal system affected in Parkinson disease and how this is reflected clinically and pharmacologically.
-loss of substance in substantial nigra, and dorsal motor nucleus of vagus, and cortex
Define the components of the motor system affected in amyotrophic lateral sclerosis and how their degeneration affects the patient's function.
-motor cortex, anterior horn cells, some corticospinal tract and spinocerebellar tract involvement
-spasticity, weakness, difficulty walking, atrophy, fasciculations, increased reflexes, decreased strength
Identify 3 common histological features of multiple sclerosis plaques, their most common anatomical localization and pattern of clinical course.
-well demarcated gray areas of demyelinization within the white matter, especially adjacent to ventricles
-patchy, random loss of myelin in optic nerves
-macrophages and T cells infiltrate around vessels
-anatomical sites: around ventricles, optic nerve
What are the gross findings in Alzheimer diseased brain? How does it reflect clinical findings?
-narrowing of gyri of frontal lobe, also in parietal lobe and association cortices
-widening of sulci
-parietal: visual spatial problems
-loss of memory
What is the anatomic basis of the cholinergic loss in Alzheimer disease?
Nucleus basalis of Meynert, which is rich in Ach, in anterior forebrain
What are neurofibrillary tangles and how do they form?
-tau proteins are microtubule proteins which are released from the tubes and form aggregates in AD
What are neuritic plaques? Where are they found?
-deposits of Abeta amyloid
-in grey matter
What region of the CNS bear brunt of Huntington disease? How are these changes reflected clinically?
Basal Ganglia: caudate nucleus
-outer walls of ventricle flatten due to disappearing caudate
-clinically: depression, dementia, chorea