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Brain Disorders > Parkinson's Pathogenesis > Flashcards

Parkinson's Pathogenesis Flashcards

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1
Q

What sex is more likely to get PD?

A

Male

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2
Q

What are the 3 types of PD onset?

A

Juvenile - before 20
early - 20-50
Late - after 50

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3
Q

What are 2 environmental risk factors?

A

Head trauma
Pesticide/herbicide exposure

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4
Q

What % of PD patients have a family history?

A

15 (5-10% have monogenic forms)

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5
Q

What 2 environmental factors can be protective in a dose-dependent manner?

A

caffeine
smoking

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6
Q

What are autosomal dominant PD?

A

Autosomal dominant mutations in SNCA (PARK1) & LRRK2 (PARK8)

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7
Q

What are autosomal recessive PD?

A

mutations in PRKN (PARK2), DJ-1 (PARK7) and PINK1 (PARK6)

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8
Q

What are genes resulting in mendelian forms of parkinsonism?

A

PARK genes

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9
Q

What does SNCA encode?

A

alpha-Syn that codes for protein alpha-synuclein
mutation on exon 4

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10
Q

What does SNCA have similiar clinical & pathological marks to?

A

idiopathic PD

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11
Q

What is SNARE complex responsible for?

A

fusion of NTs to synaptic membrane

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12
Q

Where is LRRK2 mutated?

A

G2019S mutation

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13
Q

Which patients is the LRRK2 mutation found in?

A

Later age onset
Idiopathic PD

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14
Q

What 4 functions is LRRK2 involved in?

A

Cell signaling
autophagy
Trafficking
mitochondrial function

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15
Q

What 3 things does increased LRRK2 kinase activity cause?

A

Impaired vesicle trafficking & lysosome function
Promotes neuroinflammation

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16
Q

What do LRRK2 alleles affect?

A

Neuroinflammation

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17
Q

What do WT LRRK2 variants play a role in?

A

Idiopathic PD

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18
Q

Where is the PRKN gene mutation found?

A

Chromosome 6

19
Q

What 2 characteristics do PRKN mutations have?

A

Typical PD features
lower-limb dystonia

20
Q

What 3 types of PD is PRKN gene mutation most common in?

A

Early-onset autosomal recessive PD
Sporadic early/late-onset

21
Q

What 3 things is PRKN involved in?

A

Autophagy
Apoptosis
mitochondrial clearance

22
Q

What 3 types of mutations are PINK1 mutations?

A

Point
frameshift
truncating

23
Q

What type of PD does PINK1 mutations cause?

A

early onset recessive PD

24
Q

What 4 mutations are DJ-1 mutations?

A

Missesne
whole exon deletions
frameshift
splice site

25
Q

What type of PD is DJ-1 mutations found in?

A

Early onset

26
Q

What are PINK1 and DJ-1 involved in?

A

Maintenance of mitochondrial homeostasis

27
Q

What is MAPT?

A

protein hat encodes tau

28
Q

What are 2 major haplogroups of MAPT?

A

H1 and H2 due to chromosome inversion

28
Q

What do mutations in cases with MAPT & SNCA cause?

A

Parkinsonism with dementia

29
Q

What PD cases does MAPT have a role in?

A

Familial cases
Sporadic PD

30
Q

What 4 genes is molecular diagnostic testing used for?

A

PRKN
PINK1
DJ-1
LRRK2

31
Q

What PD is molecular diagnostic testing used for?

A

Early onset - test for PRKN

32
Q

Is molecular diagnostic testing used for onset above 40?

A

No as PRKN mutation is quite low & its expensive

32
Q

What screening is done for late onset idiopathic PD?

A

3 most common mutations in LRRK2
familial history

33
Q

What are the 3 mutations screened for LRRK2

A

codons 1441, 2019, 2020

34
Q
A
35
Q

What are 4 synucleinopathies?

A

PD
PD dementia
Dementia with lewy bodies
Multiple system atrophy

36
Q

What are 4 steps of alpha syn & tau in NDG?

A
  1. alpha syn inhibits tubulin binding to tau
  2. alpha syn promotes tau phosphorylation
  3. alpha syn triggers tau polymerization
  4. alpha syn spreads & seeds tau inclusion
37
Q

What happens if mitochondrial is depolarized?

A

lose different conc. in electron & proton = loss of ATP

38
Q

What NT is excessively released into substantia nigra pars compacta in pD?

A

Glutamate -> too high Ca2+ -> disruptive cascades

39
Q

What 2 structures release cytokines in PD?

A

Astrocytes
microglia

40
Q

What are 2 types of immunotherapy?

A

Antibodies & inhibitors of neurotoxic agents
Conformation-specific antibodies bind alpha-syn
failed in 2022

41
Q

What immunoglobulin target alphasyn?

A

Humanized IgG1 monoclonal anti-alphasyn antibodies

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