neurodegenerative diseases Flashcards

1
Q

cortical degenerative diseases

A
alzheimers
frontotemporal dementias
picks
diffuse lewy body disease
corticobasal degneration
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2
Q

midbrain degenerative diseases

A

parkinsons and parkinsonian diseases

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3
Q

caudate nucleus degenerative diseases

A

huntingtons

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4
Q

spinocerebellar degenerations

A

CAG repeat syndromes
spoinocerebellar ataxias
friedreich’s ataxia

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5
Q

motor system degenerative diseases

A

ALS

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6
Q

beta amyloid diseases

A

alzheimers (AD)

cerebral amyloid angiopahty

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7
Q

Tau diseases

A
AD
frontotemporal lobar degeneration (FTLD)
Picks
progressive supranuclear palsy
corticobasal degeneration
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8
Q

TDP43

A

FTLS

some forms of ALS

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9
Q

synuclein

A

parkinsons
dementia w/lewy bodies
multiple system atrophy

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10
Q

huntingtin

A

hungtington disease

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11
Q

AD

A
most common cause of dementia >85
onset >65
most are sporadic
can be familial 
common at early age in Down syndrome
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12
Q

AD and beta amyloid

A

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

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13
Q

AD and tau

A

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

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14
Q

familial AD

A

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

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15
Q

early onset AD

A
presenilin 1 (14q24.3)
presenilin 2 (1q31-q42)
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16
Q

cerebral amyloid angiopathy

A

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

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17
Q

AD CSF

A

decreased B-amyloid

increased Tau

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18
Q

frontotemporal lobar degenerations (FTLD)

A

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

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19
Q

tau associated FTLD

A

Picks
PSP
CD

20
Q

picks

A

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

21
Q

progressive supranuclear palsy

A

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

22
Q

parkinsons disease (PD)

A

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

23
Q

lewy bodies

A

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

24
Q

diffuse lewy body disease

A

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

25
Q

multiple system atrophy

A

severe white matter atrophy of pons and putamen involving:

  • basal ganglia -> parkinsonism
  • olivopontocerebellar circuit -> ataxia
  • autonomic nervous system -> orthostatic hypotension
26
Q

differentiating MSA and PD

A

no lewy bodies in MSA

in MSA there are immunoreactive cytoplasmic inclusions in oligodendrocytes

27
Q

huntingtons disease

A
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
28
Q

amyotrophic lateral sclerosis (ALS)

A

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

29
Q

progressive bulbar palsy

A

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

30
Q

proteins that may be involved with ALS

A

SOD-1

TDP-43

31
Q

pathophys of ALS

A

95% sporadic

motor neurons die by wallerian degeneration w/secondary gliosis

32
Q

friedreichs ataxia

A

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

33
Q

spinocerebellar ataxias

A

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

34
Q

autosomal dominant spinocerebellar ataxias (ADSCA)

A

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

35
Q

post viral demyelination

A

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

36
Q

neuromyelitis optica (NMO)

A

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

37
Q

MS

A

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

38
Q

pathophys of MS

A

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

39
Q

MS histology

A

active plaque- lymphocytes and lipid laden macros

inactive plaque- loss of oligodendroctyes, astrocyte proliferation, and gliosis -> sclerosis

40
Q

MS clinical

A

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

41
Q

Dx MS

A

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

42
Q

CSF in bacterial infections

A

low glucose
neutrophils
increased protein

43
Q

CSF in viral infections

A

normal glucose
lymphocytes
increased protein

44
Q

CSF in TB

A

decreased glucose
lymphocytes
increased protein

45
Q

CSF in GB

A

decreased glucose
no immune cells
increased protein

46
Q

CSF in MS

A

normal glucose
no immune cells
normal protein w/oligoclonal bands

47
Q

central pontine myelinosis

A

ostomic demyelination syndrome

occurs after rapid correction of sever hyponatremia