neurodegenerative diseases

Question 1

cortical degenerative diseases

Answer 1

alzheimers
frontotemporal dementias
picks
diffuse lewy body disease
corticobasal degneration

Question 2

midbrain degenerative diseases

Answer 2

parkinsons and parkinsonian diseases

Question 3

caudate nucleus degenerative diseases

Answer 3

huntingtons

Question 4

spinocerebellar degenerations

Answer 4

CAG repeat syndromes
spoinocerebellar ataxias
friedreich’s ataxia

Question 5

motor system degenerative diseases

Answer 5

ALS

Question 6

beta amyloid diseases

Answer 6

alzheimers (AD)

cerebral amyloid angiopahty

Question 7

Tau diseases

Answer 7

AD
frontotemporal lobar degeneration (FTLD)
Picks
progressive supranuclear palsy
corticobasal degeneration

Question 8

TDP43

Answer 8

FTLS

some forms of ALS

Question 9

synuclein

Answer 9

parkinsons
dementia w/lewy bodies
multiple system atrophy

Question 10

huntingtin

Answer 10

hungtington disease

Question 11

AD

Answer 11

most common cause of dementia >85
onset >65
most are sporadic
can be familial 
common at early age in Down syndrome

Question 12

AD and beta amyloid

Answer 12

abnormal cleave of protein leads to insoluble monomors which aggregate in neuropile -> plaques

Question 13

AD and tau

Answer 13

normal tau associated with microtubules intracellularly to stabilize them
abnormal dissociates and aggregates to form tangles

Question 14

familial AD

Answer 14

-beta amyloid precursor protein (21q21) -this is in the same region
as down syndrome mutations
-apolipoprotein E gene (19q13.2)
-tau (17q21.1)

Question 15

early onset AD

Answer 15

presenilin 1 (14q24.3)
presenilin 2 (1q31-q42)

Question 16

cerebral amyloid angiopathy

Answer 16

not AD, but all AD pts have amyloid deposition (however it is a different type of amyloid then non-AD associated)
can cause ischemic or hemorrhagic lesions

Question 17

AD CSF

Answer 17

decreased B-amyloid

increased Tau

Question 18

frontotemporal lobar degenerations (FTLD)

Answer 18

common cause of early onset dementia
two categories:
tau associated
TDP43 associated

Question 19

tau associated FTLD

Answer 19

Picks
PSP
CD

Question 20

picks

Answer 20

tau aggregates in neuronal cytoplasm are circular and smooth - called pick bodies
presents 45-65 w/confusion a
advances stages clinically identical to AD

Question 21

progressive supranuclear palsy

Answer 21

progressive truncal rigidity, disequillibrium w/frequent falls and difficulty w/voluntary eye mvmts
onset 5-6 decades
M>F
fatal in 2-7 years

Question 22

parkinsons disease (PD)

Answer 22

hypokinetic disorder d/t loss of dopaminergic neurons of substantia nigra
progresses to global lewy body disease

Question 23

lewy bodies

Answer 23

fibrils of insoluble polymers of alpha synuclein deposited in neuronal body form eosinophilic cytoplamic inclusions
also deposited in glial cells

Question 24

diffuse lewy body disease

Answer 24

sporadic neurodegenerative disease thought to be second most common cause of dementia after AD
combines manifestations of dementia and parkinosonism
present with fluctuating attention, cognition, and visual hallucinations

Question 25

multiple system atrophy

Answer 25

severe white matter atrophy of pons and putamen involving: - basal ganglia -> parkinsonism - olivopontocerebellar circuit -> ataxia - autonomic nervous system -> orthostatic hypotension

Question 26

differentiating MSA and PD

Answer 26

no lewy bodies in MSA | in MSA there are immunoreactive cytoplasmic inclusions in oligodendrocytes

Question 27

huntingtons disease

Answer 27

``` fatal autosomal dominant disease with onset in 4-5th decades loss of caudate and putamen with gliosis huntingtin intranuclear inclusions huntingtin may be passed like a prion d/t CAG repeats >36 =HD ```

Question 28

amyotrophic lateral sclerosis (ALS)

Answer 28

fatal degenerative disorder of UMN and LMN dementia may appear at onset or develop later usually die in 2-3 yrs d/t respiratory paralysis

Question 29

progressive bulbar palsy

Answer 29

variant of ALS that begins with brainstem symptoms and is much more aggressive

Question 30

proteins that may be involved with ALS

Answer 30

SOD-1 | TDP-43

Question 31

pathophys of ALS

Answer 31

95% sporadic | motor neurons die by wallerian degeneration w/secondary gliosis

Question 32

friedreichs ataxia

Answer 32

autosomal recessive GAA repeats on frataxin gene 1st decade- hand clumsiness, ataxia, pes cavus, DM death usually d/t CHF or arrythimias

Question 33

spinocerebellar ataxias

Answer 33

group of autosomal dominant ataxias d/t CAG repeats at multiple loci

Question 34

autosomal dominant spinocerebellar ataxias (ADSCA)

Answer 34

very diverse group of conditions all have CAG expansion shows anticipation core neuropath is cerebellar degeneration

Question 35

post viral demyelination

Answer 35

in kids autoimmune molecular mimicry response usually recover spontaneously rare hemorrhagic form that is usually fatal

Question 36

neuromyelitis optica (NMO)

Answer 36

aka Devics disease b/l painful optic neuritis and spinal cord demyelination intense vomiting W>M poor recovery autoAbs against aquaporin-4 of astrocytes Tx- plasmaphoresis and anti CD20

Question 37

MS

Answer 37

autoimmune demyelinating disease w/relapsing and remitting episodes of neurologic loss strong geographic link to northern latitudes before age 5

Question 38

pathophys of MS

Answer 38

TH1 and TH17 lymphocytes react to meylin Ags (type IV hypersensitivity) humoral immunity w/production of IgG oligoclonal bands in CSF

Question 39

MS histology

Answer 39

active plaque- lymphocytes and lipid laden macros | inactive plaque- loss of oligodendroctyes, astrocyte proliferation, and gliosis -> sclerosis

Question 40

MS clinical

Answer 40

F>M young adult sesnroy loss, motor loss, cramping, autonomics affected (incontinence) optic neuritis w/loss of vision or pain on mvmt fatigue, depression UMN signs

Question 41

Dx MS

Answer 41

clinical- more then one attack MRI CSF- IgG oligoclonal bands

Question 42

CSF in bacterial infections

Answer 42

low glucose neutrophils increased protein

Question 43

CSF in viral infections

Answer 43

normal glucose lymphocytes increased protein

Question 44

CSF in TB

Answer 44

decreased glucose lymphocytes increased protein

Question 45

CSF in GB

Answer 45

decreased glucose no immune cells increased protein

Question 46

CSF in MS

Answer 46

normal glucose no immune cells normal protein w/oligoclonal bands

Question 47

central pontine myelinosis

Answer 47

ostomic demyelination syndrome | occurs after rapid correction of sever hyponatremia