Path XII

Question 1

synucleinopathy

Answer 1

parkinsons

Question 2

lewy bodies

Answer 2

fibrils of insoluble polymers of alpha synuclein deposited in neuronal body and form lamellated eosinophilic cytoplasmic inclusions (lewy bodies)

Question 3

lewy bodies are also found in what cells

Answer 3

astrocytes and oligodendrocytes

Question 4

aggregates in parkinsons

Answer 4

alpha synuclein

Question 5

lewy bodies cause what

Answer 5

neuronal degeneration and death

Question 6

lewy bodies are found where in brain

Answer 6

all throughout

Question 7

black color of substantia nigra can come from what

Answer 7

melanin in catecholaminergic cells

Question 8

melanin granule color in lewy body

Answer 8

red brown

Question 9

what stain would be + in substantia nigra neurons

Answer 9

GFAP for gliosis

Question 10

second most common cause of dementia (not AD)

Answer 10

diffuse lewy body disease

Question 11

diffuse lewy body disease combines what

Answer 11

dementia and parkinsonism

Question 12

diffuse lewy body disease presentation

Answer 12

fluctuating attention and cognition and visual hallucinations
depression, sleep disorder and autonomic dysfunction

Question 13

motor manifestations in diffuse lewy body disease

Answer 13

bradykinesia, rigidity, and less frequently tremor… may appear later

Question 14

brain in diffuse lewy body disease

Answer 14

not atrophic

small inconspicuous lewy bodies in neocortex, limbic system and brainstem

Question 15

circuits involved in multiple system atrophy MSA

Answer 15

1: striatonigral circuit (parkinsonism)
2: olivopontocerebellar circuit (ataxia)
3: autonomic nervous system including central elements (orthostatic hypotension as prominent component)

Question 16

steele gray color of putamen

Answer 16

multiple system atrophy

Question 17

are there lewy bodies in substantia nigra in multiple system atrophy

Answer 17

no

Question 18

huntingtons

Answer 18

fatal autosomal dominant condition beings in 4th-5th decade of life

Question 19

characterization of huntingtons

Answer 19

behavioral changes, chorea, dementia

Sx begin before age 20

Question 20

areas affected by huntington

Answer 20

caudate and putamen

Question 21

IHC stain for huntingonts

Answer 21

huntington protein or ubiquitin

Question 22

aggregations in huntingtons

Answer 22

abnormal huntington protein (with ubiquitin)

Question 23

aggregated huntington can cause what

Answer 23

taken up by neurons and suggests prion like spread from one neuron to another

Question 24

trineucleotide repeat disorder in huntingtons

Answer 24

CAG

increased glutamine

Question 25

gene for huntington

Answer 25

4p16.3 encodes protein huntingtin | more than 35 CAG copies assoc with disease

Question 26

type of transmission of CAG in huntingtons

Answer 26

paternal transmission | "anticipation" inc risk earlier onset in upcoming generations

Question 27

polyglutamine or polyQ

Answer 27

HD | because inc CAG which encodes glutamine or "Q"

Question 28

3 mechanisms of unstable repeats cause disease

Answer 28

loss of function from transcription silencing toxic gain of function from alterations of protein structure toxic gain of function mediated by mRNA like fragile X tremor ataxia syndrome

Question 29

gross image of HD brain

Answer 29

large ventricles and atrophy of caudate nuclei

Question 30

Tx HD

Answer 30

dopamine antagonists | genetic screening

Question 31

structure implicated in HD

Answer 31

degeneration GABA neurons of striatum-caudate nucleus

Question 32

hemibalismus affects what structure

Answer 32

subthalamic nucleus | contralateral hemorrhagic damage

Question 33

characteristics hemiballismus

Answer 33

violent, flinging movements usually involving an entire arm on one side

Question 34

chorea, dance like gait, athetosis, personality changes

Answer 34

HD

Question 35

``` pill rolling tremor at rest bradykinesia masked facies small movements cogwheel rigidity ```

Answer 35

PD

Question 36

ALS affects what motor neurons

Answer 36

UMN and LMN

Question 37

LMN loss causes what

Answer 37

mm weakness, atrophy and fasciculations

Question 38

UMN involvement causes what

Answer 38

spasticity, clonus, hyperactive DTR and babinski sign

Question 39

when does dementia occur in ALS

Answer 39

onset or later

Question 40

what type ALS has worse prognosis

Answer 40

progressive bulbar palsy

Question 41

ALS patients die from

Answer 41

respiratory paralysis usually within 2-3 years Sx

Question 42

Dx ALS based on

Answer 42

clinical and electrodiagnositc findings and muscle biopsy

Question 43

Where does the degeneration in ALS occur

Answer 43

anterior horns and motor nuclei of brain stem

Question 44

what nuclei are specifically affected in ALS

Answer 44

hypoglossal nuclei, oculomotor, trochlear and abducens medulla open space at top where 4th ventricle is

Question 45

etiology of ALS

Answer 45

prion like spread misfolded proteins SOD-1 and TDP-43

Question 46

how do motor neurons die in ALS

Answer 46

wallerian degeneration with secondary gliosis

Question 47

Dx ALS

Answer 47

clinical: progression of weakness over mo | needle electromyography and nerve conduction studies

Question 48

3 groups ataxia

Answer 48

friedreichs ataxia spinocerebellar ataxia cerebellar ataxia

Question 49

friedreichs ataxia

Answer 49

autosomal recessive GAA repeats on frataxin gene spasticity weakness, sensory neurpathy, cardiomyopathy

Question 50

friedrichs ataxia seen in what age group

Answer 50

young kids <10

Question 51

death in friedrichs ataxia

Answer 51

CHF and arrhythmias

Question 52

spinocerebellar ataxias

Answer 52

autosomal dominant ataxias caused by CAG repeats on multiple chromosomal loci

Question 53

cerebellar ataxias

Answer 53

diverse group of sporadic diseases that cause cerebellar degeneration and degeneration of other anatomical systems

Question 54

friedreichs ataxia is what type disease

Answer 54

degenerative. not demyelinating

Question 55

what causes cerebellar ataxia in friedreichs

Answer 55

loss of sensory ganaglion cells and degeneration of axons in peripheral nerves, dorsal roots and posterior columns deprives cerebellum of sensory input