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Neurodegenerative diseases Flashcards

1
Q

neurodegenerative disorders

A

characterized by progressive dysfunction and death of neurons
- Abnormal accumulations of specific proteins in the brain

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2
Q

degeneration repercussions

A

often affects specific systems, implying selective vulnerability ⇒ not all brain regions are the same and some may be affected by certain toxins or not

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3
Q

pathophysiology of neurodegenerative diseases (3)

A
  • Aging is generally the most important risk factor
  • Interaction between genetic and environmental factors ⇒ Parkinson’s and MS
  • Genetic and sporadic forms
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4
Q

prevalence

A

proportion of people in the population affected by each disease

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5
Q

incidence

A

rate or frequency of the disease

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6
Q

what % of neurodegenerative disease is AD?

A

75% followed by parkinson’s and MS

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7
Q

types of neurodegenerative diseases (2)

A
  1. cognitive
  2. motor
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8
Q

cognitive disorders

A

degeneration affects the cerebral cortex, leading to dementia
- Alzheimer’s disease (AD), frontotemporal dementia (FTD), Pick’s disease

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9
Q

motor disorders (4)

A
  1. Degeneration affects motor neurons leading to motor weakness
    - Amyotrophic Lateral Sclerosis (ALS) aka Lou Gherigs disease, spinal muscular atrophy (SMA)
  2. Degeneration affects cerebellum and tracts leading to Cerebellar ataxia
    - Spinocerebellar ataxias (SCA)
  3. Degeneration affects substantia nigra and basal ganglia leading to akinetic and rigid movements
    - Parkinson’s disease (PD), progressive supranuclear palsy (PSP) => akinetic
  4. Degeneration affects basal ganglia leading to hyperkinetic movements
    - Huntington’s disease (HD) => hyperkinetic
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10
Q

Ataxia

A

lack of voluntary coordination of muscle movement and ability to maintain proper gait when standing and walking ⇒ can translate into speech abnormalities

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11
Q

Akinetic

A

Akinetic

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12
Q

hyperkinetic

A

high tuned and sometimes uncontrolled muscle movements

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13
Q

brain structures affected in Huntingtons

A

caudate nucleus, striatum, and frontal cortex

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14
Q

brain structures affected in AD

A

hippocampus, entorhinal, and frontal cortex

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15
Q

brain structures affected in frontotemporal dementia

A

frontal and temporal cortex

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16
Q

brain structures affected in PD

A

substantia nigra

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17
Q

brain structures affected in cerebellar ataxia

A

cerebellum neuron loss
- all brain cells may express mutant proteins but certain brain regions will degrade first

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18
Q

brain structures affected in Amyotrophic lateral sclerosis

A

motor neurons

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19
Q

protein aggregates

A

occur within cells (protein inclusions) and occur outside the cells in extracellular space (plaque)
- There can be misfolded proteins that form aggregated inside and outside of cells
- there are both neuron and glial inclusions in the disorders

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20
Q

how does inflammation work in neurodegenerative diseases?

A

we often see inflammation due to the substances which the body will attack as if it is foreign
- protein aggregates will form in cells and the neurons will be harmed as they become larger
- The neurons will release molecules called DAMPS ⇒ damage associated molecular patterns

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21
Q

DAMPS

A

molecules that can activate certain receptors in immune cells
- Microglia share same origin as immune cells which express pattern recognition receptors that sense the presence of DAMPS to start immune response
- This triggers an inflammation cascade
- Particularly in areas where the blood brain barrier is compromised ⇒ macrophages will invade the brain and contribute to further information which creates worse symptoms

22
Q

Alzheimer’s disease

A

progressive neurodegenerative dementia, whose duration (death) of the disease can vary from 3 years to 20 years ⇒ after clinical manifestation
- Most common type of dementia in the elderly ⇒ decline in mental ability severe enough to interfere with daily life
- Difficult to perform activities of daily living

23
Q

ow many Americans have dementia in 2024

24
Q

classifications of AD (% genetic)

A
  • 98% sporadic ⇒ late onset AD
  • 2% familial ⇒ early onset AD (as early as 24)
25
genes in AD (3)
- APP ⇒ chromosome 21 (Amyloid Precursor Protein) - PSEN1 ⇒ chromosome 14 (Presenilins) - PSEN2 ⇒ chromosome 1 (Presenilins)
26
histological features of AD (4)
- Gyri are smaller and sulci are larger (loss of 30%) - the lateral ventricles are larger and so is 3rd ventricle - hippocampus is mostly gone and the surrounding enteral cortex is also gone - extracellular accumulation of amyloid-beta (Abeta) in amyloid plaques (brown) and intracellular accumulation of tau inclusions forming neurofibrillary tangles (black)
27
MCI AD; characterization?
mild cognitive impairment which leds to AD ⇒ characterized by neuronal death (first phase)
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Preclinical AD
misfolding and aggregation of ABeta and Tau leading to plaques and NFT’s - 2-3 decades long ⇒ can tell us there may be identifiable signs
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clinical presentation of Alzheimers early on (3)
- Memory loss that disrupts daily life - Confusion with time or place - Trouble with visual and spatial
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clinical presentation of Alzheimers later on (4)
- Challenges in planning or solving problems - New problems with word finding and speaking - Decreased or poor judgment - Changes in mood or personality (second phase)
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Apolipoprotein E (APOE4)
depending on how many copies your risk will increase for AD - 2, 3, or 4 copies - 2 copies makes you 12x more likely - 1 copy makes you 3x more likely
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symptomatic treatments for AD (2)
1. Cholinesterase inhibitors ⇒ the original brain area that degenerates characteristically has cholinesterase - Donepezil (Aricept) - Rivastigmine (Excelon) - Galantamine (Razadyne) 2. NMDA receptor antagonists ⇒ prevent neuron loss - Memantine-HCl (Namenda)
33
disease modifying agents for AD
Aggregated ABeta antibodies ⇒ antibodies targeting ABeta only for those in MCI stage - Donanemab (Kisunla) - Lecanemab (Lequembi)
34
what happens to some people taking the ABeta antibodies?
may have swelling/bleeds in the brian which can cause seizures and other symptoms (rare) - APOE4 carriers are at greater risk of complications - only for MCI and mild AD with relatively modest effects of 20%
35
Parkinson’s disease
belongs to a group of conditions called motor system disorders which are the result of the loss of dopamine-producing brain cells in the substantia nigra (>50-70%) - Named after physician James Parkinson
36
classifications of PD (% genetic)
- 95% sporadic and occurs late onset PD - 5% familial for early onset PD
37
genes for PD (5)
- SNCA (alpha-synuclein) - Parkin - DJ-1 - PINK1 (PTEN-induced kinase 1) - LRRK2 (Leucine-Rich repeat kinase 2)
38
Sporadic PD
associated with risk factors, notably aging (>50 years) and exposure to pesticides (rotenone) or herbicides (Agent orange) ⇒ why midwest has a lot of cases particularly
39
histological features of PD
loss of neurons in Substanta nigra - Lewy bodies and Lewy neurites are intracellular aggregates of alpha-synuclein in the soma and neurites respectively
40
symptoms of PD (4)
- Tremor: trembling in hands, arms, legs, jaw, and face ⇒ resting tremor - Rigidity: stiffness of the limbs and trunk - Bradykinesia: slowness of movement ⇒ patients usually cannot turn while walking - Postural instability: impaired balance and coordination
41
PD onset symptoms that are non-motor (5)
- Sleep disorders - Autonomic function - Sensation - Mood disorders - Cognitive impairment → in the advanced stages of the disease, cognitive and behavioral problems may arise, with dementia commonly occurring ⇒ 30-80% of subjects with PD
42
symptomatic treatments of PD (3)
- L-Dopa ⇒ complement the loss of dopamine cells - Dopamine receptor agonist (loss dop cells) - Deep brian stimulation (DBS) ⇒ UMN does this which introduces a pacemaker in the brain to stimulate regions of specific neurons Note: there is currently no cure but treatments exist to drastically relieve motor symptoms
43
Multiple Sclerosis
chronic, inflammatory, demyelinating and neurodegenerative disease of the central nervous system (CNS) ⇒ likely affecting glial cells - MS is a heterogenous, multifactorial, immune mediated (autoimmune) disease that is caused by complex gene environment interactions - Immune cells attack the glial cells myelinating in the CNS
44
4 clinical courses of MS
1. Relapsing remitting MS (RRMS) ⇒ 85% 2. Secondary progressive MS (SPMS) ⇒ 85% 3. Primary progressive MS (PPMS) ⇒ 10-15% (gradually progressive) 4. Progressive relapsing MS (PRMS) ⇒ rare
45
symptoms of MS (4)
Immune mediated inflammatory demyelinating disease of the CNS - Optic neuritis (early) - Clumsiness and muscle weakness - Paresthesias ⇒ abnormal feeling in skin - Lhermitte sign ⇒ discharge feelings when you do movements of your neck
46
treatment options of MS (3)
- corticosteroids - Beta interferons 1A and 1B - glatiramer acetate
47
pathological features of MS (6)
- white matter ⇒ myelin pathology (blue arrowheads) by antibody labeling (brown) or by MRI - Retina ⇒ thinning of the peripapillary retinal nerve fiber layer - grey matter ⇒ myelin pathology (blue arrowheads) by antibody labeling (brown) or by MRI - meninges ⇒ vascular pathology (blue arrowheads) by MRI or by histology staining pink - optic nerve ⇒ myelin pathology by MRI (pink circle) and antibody labeling (brown) - thalamus and pons ⇒ myelin pathology (blue arrowheads) by antibody labeling (brown) or by MRI
48
pathological hallmarks of MS plaques (4)
- Inflammation - Demyelination - Oligodendrocyte death - Axon degeneration
49
symptomatic treatments for MS (2)
1. Corticosteroids - Reduce inflammation 2. Plasma exchange - Slows down functional decline (breathing)
50
Disease modifying treatments for MS
1. Ocrelizumab (Ocrevus) - For primary progressive MS and only FDA approved disease modifying therapy ⇒ those receiving the treatment are slightly less likely to progress than untreated people 2. Many treatment options available - For relapsing remitting Ms, several disease modifying therapies are available 3. New treatments soon possibly - For secondary progressive MS there is tolebrutinib (Sanofi) which is a BTK inhibitor ⇒ 30% delay in onset of disability progression
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Neuroscience (18 decks)

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