10.14 Neurodegen

Question 1

Alzheimer’s proteins

Answer 1

beta amyloid (BAPtists)

tau (TAUists)

Question 2

APP gene

Answer 2

Alzheimer’s

Question 3

Down’s syndrome

Answer 3

Alzheimer’s

Question 4

PS1 and PS2 genes

Answer 4

Alzheimer’s

Question 5

ApoE4

Answer 5

bad for Alzheimer’s

Question 6

ApoE2

Answer 6

protective for Alzheimer’s

Question 7

senile plaques

Answer 7

Alzheimer’s

Question 8

neurofibrillary tangles

Answer 8

Alzheimer’s

Question 9

symptom progression in Alzheimer’s

Answer 9

1st: hippocampus and temporal lobe (memory)
last: primary motor and sensory

Question 10

central amyloid core surrounded by dystrophic neurites

Answer 10

senile plaques in Alzheimer’s

Question 11

senile plaques seen with what stain

Answer 11

beta amyloid

Question 12

intracytoplasmic aggregates of Tau

Answer 12

neurofibrillary tangle in Alzheimer’s

Question 13

dots surrounded by halo in pyramidal neurons of hippocampus

Answer 13

granulovacuolar degeneration (Alzheimer’s and non demented)

Question 14

eosinophilic neuronal inclusions

Answer 14

Hirano body (can be seen in Alz)

Question 15

coffin lid

Answer 15

Hirano body (can be seen in Alz)

Question 16

amyloid angiopathy

Answer 16

can be seen in Alzheimer’s

Question 17

behavior, personality, language sxs

Answer 17

pick disease

Question 18

atrophy of frontal and temporal lobes with sparing of posterior 2/3 of superior temporal gyrus

Answer 18

pick disease

Question 19

proteinopathy in pick disease

Answer 19

tau (tauopathy)

Question 20

eosinophilic, intracytoplasmic lesion in dentate fascia of hippocampus

Answer 20

Pick bodies in pick disease

Question 21

affects cortex (dementia) and deep gray nuclei (movement disorder - truncal rigidity, nuchal dystonia, vertical gaze palsy)

Answer 21

progressive supranuclear palsy

Question 22

proteinopathy in progressive supranuclear palsy

Answer 22

tauopathy

Question 23

globose neurofibrillary tangles

Answer 23

progressive supranuclear palsy

Question 24

neuronal loss in globus pallidus

Answer 24

progressive supranuclear palsy

Question 25

affects cortex (cognitive decline) and basal ganglia (movement disorder - rigidity, asymmetric motor disturbances) and affects glial cells (astrocytes and oligodendrocytes)

Answer 25

corticobasal degeneration

Question 26

proteinopathy in corticobasal degeneration

Answer 26

tauopathy

Question 27

ballooned neuron and astrocytic plaque

Answer 27

corticobasal degeneration

Question 28

TDP43 positive (tau negative)

Answer 28

motor neuron disease inclusion dementia

Question 29

proteinopathy in motor neuron disease inclusion dementia

Answer 29

TDP43opathy

Question 30

mutation of MAPT gene encoding tau protein

Answer 30

frontotemporal dementia with parkinsonism

Question 31

atrophy of frontal and temporal lobes with neurofibrillary tangles, but no neuritic plaques - dx - cause

Answer 31

frontotemporal dementia with parkinsonism mutation in MAPT gene encoding tau

Question 32

proteinopathy of dementia with lewy bodies

Answer 32

synucleinopathy

Question 33

worse with cholinesterase inhibitors

Answer 33

dementia with lewy bodies

Question 34

parkinson's is damage to

Answer 34

nigrostriatal dopaminergic system

Question 35

symptoms of parkinsons

Answer 35

Tremor Rigidity Akinesia (diminished facial expression, slow voluntary movement) Posture and gait abnormalities - shuffling gait

Question 36

L DOPA used to treat

Answer 36

parkinsons

Question 37

Lewy bodies

Answer 37

parkinsons

Question 38

pale substantia nigra and locus ceruleus

Answer 38

parkinsons

Question 39

cytoplasmic inclusion inside pigmented neuron

Answer 39

lewy body - parkinsons

Question 40

AD CAG repeat, paternally transmitted

Answer 40

Huntington

Question 41

jerky movements, dementia, increased risk of suicide

Answer 41

huntington

Question 42

loss of GABAergic neurons and atrophy of caudate and putamen

Answer 42

huntington

Question 43

proteinopathy of multiple system atrophy

Answer 43

synucleinopathy

Question 44

glial cytoplasmic inclusions

Answer 44

multiple system atrophy

Question 45

can involve autonomic nuclei (Shy Drager syndrome)

Answer 45

multiple system atrophy

Question 46

Friedreich ataxia gene

Answer 46

frataxin-1

Question 47

ataxia telangiectasia gene

Answer 47

ATM

Question 48

``` child cerebellar signs decr deep tendon reflexes, impaired position and vibration pes cavus and kyphoscoliosis - dx - also look for ```

Answer 48

Friedreich ataxia cardiac disease and diabetes

Question 49

loss in cerebellar vermis, posterior columns

Answer 49

Friedreich ataxia

Question 50

symptoms of ataxia telangiectasia

Answer 50

(ataxia, telangiectasia) immunodeficiency (recurrent sinopulmonary infections) increased malignancies (lymphoid malignancies)

Question 51

lose cerebellar purkinje and granule cells and degen dorsal columns

Answer 51

ataxia telangiectasia

Question 52

mutated copper-zinc superoxide dismutase gene (SOD1) on chromosome 21

Answer 52

ALS

Question 53

asymmetric weakness of hands, cramping and spasticity of arms and legs, fasciculations, respiratory muscles

Answer 53

ALS

Question 54

thinning of anterior roots of spinal cord atrophy of pre central gyrus

Answer 54

ALS

Question 55

intracytoplasmic Bunina bodies

Answer 55

ALS

Question 56

younger person w/ ALS-like sxs and have androgen insensitivity (gynecomastia, testicular atrophy, oligospermia) - dx - genetic cause

Answer 56

bulbospinal atrophy / kennedy syndrome x linked CAG repeat in androgen receptor gene

Question 57

AR loss of survival motor neuron gene (SMN1)

Answer 57

spinal muscular atrophy

Question 58

infantile form of spinal muscular atrophy

Answer 58

Werdnig Hoffmann disease

Question 59

many round atrophic myofibers of entire fascicles (panfascicular atrophy); loss of anterior horn cells; atrophy of anterior spinal nerve roots; death within first 3 years of life

Answer 59

Werdnig Hoffmann disease