Extrapyramidal

Question 1

What is the role of the basal ganglia?

Answer 1

It unconsciously helps you correctly pattern organized movements and inhibits unwanted movement (the more you practice a movement, the less cortical involvement and the more subcortical involvement)

Question 2

What is the pathology of Parkinson’s?

Answer 2

The Substantia Nigra pigmented neurons die off and the DOPA producing capacity is reduced (symptoms develop when DOPA production is down to 20-30% of normal)

Question 3

Hyperkinesias

Answer 3

extra movements (chorea, athetosis, dystonia, ballismus, tics, tremors)

Question 4

Hypokinesias

Answer 4

muted or inhibited forms of movement (bradykinesia, slowed postural reactions, mask facies, rigidity, freezing)

Question 5

dystonia

Answer 5

abnormal sustained, repetitive muscle contractions resulting in twisting motions and unsual postures

Question 6

Huntington’s Disease

Answer 6

Autosomal dominant trinucleatide repeat (CAG >40) disease with a mean onset of 35-40 yrs that presents with CHOREA, ATHETOSIS, DEMENTIA, BEHAVIORAL CHANGES. Course is generally 13 years of progressive decline. NO effective tx, just symptomatic help. High suicide rate.

Question 7

Essential Tremor

Answer 7

A postural and intentional type, symmetrical tremor that can be sporadic or genetic. Tends to come on in early adulthood and worsen with age, though alcohol can suppress it.

Question 8

Essential Tremor vs Parkinson’s Tremor

Answer 8

Essential: postural/action, often familial, bilateral, symmetric, slowly propressing, hands, head & voice involvement
Parkinson’s: static/resting, usually sporadic, typically presents unilaterally, may progress rapidly, hand & leg involvement

Question 9

Parkinsonism

Answer 9

Condition of having 2 of 3 classic Parkinson findings (bradykinesia, rigidity, tremor) of insidious onset that start unilateral and progress to bilateral that may be cuased by something other than Parkinson’s (drug interactions (MPTP)…etc)

Question 10

Parkinson’s Disease

Answer 10

Mostly sporadic disease characterized by bradykinesia, rigidity, and resting tremor that is caused by the depigmentation of the substantia nigra. Mean survival is 15 yrs. Can be with or without Lewy Body inclusions (synuclein aggregates in CNS).

Question 11

Parkinson’s Plus Diseases

Answer 11

Whole list of syndromes that present like Parkinson’s but with other symptoms also - clues that it is not Parkinson’s include: no tremor, poor response to DOPA, early dementia, frequent falls at time of diagnosis.

Question 12

Parkinson’s Treatment

Answer 12

Replace the dopamine - levodopa and carbidopa
Surgical tx (abalation - thalamotomy, pallidotomy, DBS...)

Question 13

Alzheimer’s Disease

Answer 13

Most prevalent dementing disease caused by diffuse atrophy of the brain. Most cases are sporadic - unless early onset. Pathology is characterized by neurofibrillary tangles and AB-amaloid plaques.

Question 14

Genetic variants of Alzheimer’s Disease

Answer 14

1. B amyloid protein mutation on chromo 21
2. presenilin mutation
3. APO E - isoform 4 leads to increased risk
4. tau abnormalities

Question 15

What is the problem secretase in Alzheimer’s?

Answer 15

gamma-secretase causes the breakdown of amyloid into insoluble forms

Question 16

Frontotemporal Dementia

Answer 16

tauopathy that causes behavioral issues, progressive non-fluent aphasia and/or semantic dementia. It leaves perceptual skills and non-verbal problem solving and short term memory intact. It can be caused by Pick’s disease, Chromo 17 (tau protein) abnormalities, Parkinsons/Lewy Body Dementia, or Progressive Supranuclear Palsy.

Question 17

Pick’s Disease

Answer 17

Degeneration of the frontal and anterotemporal lobes due to abnormal tau protein agglutination and the formation of pick bodies in neuronal cell bodies.

Question 18

Progressive Supranuclear Palsy

Answer 18

Cause of frontotemporal dementia that is characterized by globose (round) tangles in the brainstem and thalamus.

Question 19

What types of dementia do Parkinson’s patients experience if they are part of the 50% who get dementia?

Answer 19

25% - Alzheimers

25% - Lewy Body Dementia

Question 20

What are examples of TDP43-opathies?

Answer 20

ALS familial type (rare), frontotemoporal dementia with ubiquinated inclusions, and some other genetic diseases

Question 21

What are examples of Trinucleotide Repeat Diseases?

Answer 21

1. Huntington’s
2. Spinocerebellar ataxia
3. Friedreich’s ataxia

Question 22

Friedreich’s ataxia

Answer 22

GAA trinucleotide repeat disorder that presents in children with ataxia, hyporeflexia, and + Babinski. Progresses to death in mid 20s usually due to cardiac issues.

Question 23

What percentage of people with Parksinson’s will have a tremor?

Answer 23

2/3 or 66%

Question 24

Tourette’s Syndrome

Answer 24

Polygenetic, hereditary syndrome that presents between the ages of 2-15 with Tics that may resolve by 18 years of age (50%) or atleast usually decrease overtime. Can have vocal and/or motor tics.