Degenerative Disorders

Question 1

What is the usual cause of death in AD?

Answer 1

Pneumonia - Death from infection!

Question 2

What must you know about AD?

Answer 2

• Major degenerative disease of cortex
• Main symptom: dementia
• Gross: atrophy
• Microscopic: plaques and tangles
• Prognosis

Question 3

What are the two main morphologies of AD?

Answer 3

1. Plaques - amyloid
2. Neurofibrillary Tangles - Tau protein
3. CAA - Cerebral amyloid angiopathy - Amyloid in the vessels

Question 4

What things must you know about Pick Disease (frontotemporal lobar degeneration)?

Answer 4

• “Frontotemporal lobar degeneration/dementia”
• Personality and language changes precede memory loss
• Severe atrophy of frontal and temporal lobe
• Pick bodies containing tau protein

Question 5

What things must you know about Parkinson Disease?

Answer 5

• Degeneration of neurons in substantia nigra
• Main symptoms: tremor (pill-rolling), rigidity, bradykinesia (slow movements)
• Gross: atrophy of substantial nigra
• Microscopic: Lewy bodies
• Prognosis: slightly shortened life expectancy

Question 6

What are Parkinsonism symptoms?

Answer 6

• Diminished facial expression
• Stooped posture
• Slowness of voluntary movement
• Festinating gait
• Rigidity
• “Pill-rolling” tremor - look like you’re rolling a pill between your thumb and first finger

Question 7

What are Parkinson’s Disease symptoms?

Answer 7

• Progressive, L-DOPA-responsive signs of parkinsonism
• Autonomic and cognitive dysfunction common
• Some patients have dementia
• L-DOPA helps symptoms but does not slow disease
• Patient have only slightly shortened lifespan

Question 8

What is the pathogenesis of Parkinson’s?

Answer 8

• 5 genes encoding totally different products known to be associated with PD
• No unifying mechanism known
• Maybe alpha-synuclein, maybe something else
• Whatever the cause, the problem is denigration of dopaminergic neurons

Question 9

What must you know about ALS (Amytrophic lateral sclerosis)?

Answer 9

• Degeneration of motor neurons
• Rapidly progressive weakness, spasticity, dysphagia
• Sensory and cognitive function are unaffected
• Death within 2-3 years due to respiratory compromise (also may die from respiratory infection)

Question 10

What are the clinical features of ALS?

Answer 10

• There are variations in every patient!
• Early: asymmetric hand weakness, arm/leg spasticity, twitching, slurred speech
• Then atrophy, fasciculations, creeping paralysis
• Eventually respiratory muscles involved (infection)
• “Progressive muscular atrophy” vs “progressive bulbar palsy”