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NEURODEGENERATIVE DISEASES Flashcards

1
Q

Disease

A

Alzheimer’s disease

Parkinson’s disease

Huntington’s disease

Amyotrophic lateral sclerosis

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2
Q

What is the most common cause for dementia?

A

Alzheimer

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3
Q

Alzheimer’s disease: epidemiology

A

6th leading cause of death
- 6.5M people with AD (1 in 9 over 65)
- Increase with age (primary risk factor)
- More common with women (2x)
- Number of people with AD is increasing

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4
Q

Alzheimer’s disease: age of onset

A

Early Onset AD (familial)
Late Onset AD (sporadic)

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5
Q

Early Onset AD

A

Age of onset <65 yrs of age
- <5% of AD cases
- Familial
- Mendelian genetics: Autosomal dominant inheritance (only need one gene)
- 3 known genes (PSEN1, PSEN2, APP)

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6
Q

Late Onset AD

A

Age of onset >65 yrs of age
- >95% of AD cases
- Can be familial (mainly sporadic)
- Complex gentic with mutiple genetic risk factors (disease associated SNPs)

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7
Q

Alzheimer’s disease: risk factors

A

Age
Family History
Genetics (shared genes or environment)
- APOE
– E4 Increase Risk
– E2 Decrease Risk

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8
Q

Alzheimer’s disease: health disparities

A

African American and Hispanic are more likely to get it

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9
Q

Alzheimer’s disease: Clinical Symptoms

A

Progressive declines that are different than typical age-related changes
- Memory loss, Confusion about time or pace, Visual and spatial problems, Decreased or poor judgement, Social withdrawal, Changes in mood, personality and behavior

Most common cause of death is infections and damage in lungs

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10
Q

Alzheimer’s disease: gross anatomy

A
  • Decrease in overall brain weight
  • Cortical atrophy
  • Loss of pigmented neurons in the locus coeruleus
  • Areas preserved (Pigmented neurons in the substantia nigra, Occipital lobe, Cerebellum)
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11
Q

What happens in Cortical Atrophy

A

Cortex Shrinks
- Widening of sulcal spaces and narrowing of gyri
- Enlarged ventricles
- Degeneration in temporal, parietal, and frontal lobes

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12
Q

Where do the loss of pigmented neurons happen?

A

In locus coeruleus

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13
Q

What areas gets perserved?

A
  • Pigmented neurons in the substantia nigra
  • Occipital lobe
  • Cerebellum
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14
Q

Alzheimer’s disease: pathological hallmarks

A

Hallmarks required for diagnosis
- Amyloid plaques: aggregates of amyloid fibrils outside neurons, amyloid beta (Aβ)
- Neurofibrillary tangles: accumulation of hyperphosphorylated tau protein inside neurons, tau

Neuronal Loss:
- Glutamatergic pyramidal neurons in entorhinal cortex and hippocampus
- Cholinergic neurons in basal forebrain
- Noradrenergic neuron in locus coeruleus

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15
Q

Amyloid plaques involves? and where?

A

It involves the aggregation of amyloid fibrils
- It happens outside neurons (amyloid beta)

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16
Q

Neurofibrillary tangles involves the accumulation of? and where

A

Involves the accumulation of hyperphosphorylated tau protein
- Happen INSIDE neurons, tau

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17
Q

Which neuron in basal forebrain?

affected by neuronal loss

A

Cholinergic

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18
Q

Which neurons in locus coeruleus?

affected by neuronal loss

A

Noradrenergic

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19
Q

Which neurons in in entorhinal cortex and hippocampus?

affected by neuronal loss

A

Glutamatergic pyramidal neurons

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20
Q

What do acetylcholinesterase inhibitor do?

A

it inhibit ACH receptors

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21
Q

When you get Late onset AD you develop?

A

Plaques, Tangles (Hallmarks) and your APOE gene mutate

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22
Q

Movement Disorders

A

Hypokinetics Disorders
- Parkinson’s Disease

Hyperkinetic Disorders
- Huntington’s Disease

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23
Q

Parkinson’s disease: epidemiology

A
  • Age of onset
    – Typically 60s-70s (~95%)
    – Early onset: before 50 (~5%)
  • 60000 new cases each year (1-2% of population above 65)
  • 1 M people in the US living with PD
  • More COMMON in men in the US
  • FASTEST growing neurological disease
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24
Q

Parkinson’s disease: environmental risk factors

A

Increased risk of PD
- Exposure to specific types of pesticides and industrial toxicants
- Exposure to heavy metals
- Head injury

Decreased risk of PD
- Cigarette smoking
- Caffeine consumption
- Physical activity

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25
Do smoking increase or decrease your risk of Parkinson's disease?
Decrease
26
Parkinson’s disease: genetic risk factors
Familial PD - SNCA (α-synuclein) ** ** -- protein found in Lewy bodies, one of the pathological hallmarks of disease - LRRK2 (Most common) - GBA (Most common) Sporadic PD - SNCA (α-synuclein) ** ** - LRRK2 (Most common mutat) - GBA (Most common) - HLA genes
27
Parkinson’s disease: medical risk factors
Constipation REM sleep behavior disorder Depression Hyposmia Excessive daytime sleepiness Diabetes High plasma urate (decreased risk)
28
Parkinson's disease: clinical symptoms
Cardinal motor symptoms: have two - Bradykinesia (slow movement) - Rigidity (stiffness) - Tremor (at rest) - Postural instability Non-motor symptoms: - Constipation - RBD - EDS - Loss of sense of smell - Mood disorders - Sexual dysfunction Difficult to diagnose;
29
Parkinson's disease: Pathological hallmarks
Hallmarks required for diagnosis: - Nigrostriatal degeneration: degeneration of pigmented dopaminergic neurons in the nigrostriatal pathway - Lewy bodies: aggregates of α-synuclein protein and other cellular components inside neurons of the substantia Extra-nigral and peripheral pathology: - Lewy pathology in other regions of the central and peripheral nervous systems
30
What is the degeneration of pigmented dopaminergic called?Where does it happen?
Nigrostriatal degeneration: Happen in the nigrostriatal pathway
31
What is aggregates of α-synuclein protein called? Where does it happen?
Lewy bodies: Happens inside neurons in the substantia
32
Parkinson's disease: affected regions
- Enteric nervous system - Olfactory bulb, brain stem - SN - Neocortex
33
Parkinson’s disease: basal ganglia
Basal ganglia controls voluntary movement - Output to motor cortex - Motor cortex sends info to muscles via corticospinal tract
34
What is Basal ganglia do?
Basal ganglia controls voluntary movement
35
Parkinson’s disease: Current FDA- approved treatments
Deep brain stimulation (DBS): Surgery Symptomatic (motor symptoms) - Levidopa/carbidopa (most common treatment)
36
DA replacement
Levidopa/carbidopa: Precurser to dopamine
37
Tremor is not specific to PD; what can indicate that it is PD?
Tremor at rest and L-DOPA responsive
38
For PD; what treatment is most likely to help treat the motor symptoms?
L-Dopa
39
Huntington’s disease: epidemiology
- About 40,000 patients with HD in the US - Increasing worldwide 9-20% each decade - Not evenly distributed geographically (European is more affected) | Rare disease
40
Huntington’s disease: genetics
- Autosomal dominant inheritance - Independent of sex
41
Huntington’s disease: genetics
CAG repeat expansion in Htt gene: - Htt encodes huntingtin protein, a synaptic protein - CAG encodes the amino acid glutamine - Polyglutamine expansion in Huntingtin Genetic Anticipation: - Number of repeats increase with each generation (more copies = earlier onset)
42
Huntingtin protein is encoded by?
Htt
43
Huntington’s disease: clinical progression
- Age of motor symptom onset: 30-50 (<20:5-10%) - Life expectancy after diagnosis: 15 years - Long prodromal phase: 10-15 years Pneumonia is a common cause of death
44
Huntington’s disease: clinical symptoms
- **Chorea**: brief involuntary dance-like movements (Clinical Hallmark) - Difficulty with voluntary motor behavior - Motor impersistence - Impairments in fine motor activity - Variability of the pace of walking
45
Is Chorea voluntary or involuntary?
involuntary dance-like movements
46
Huntington’s disease: gross anatomy
- **Striatal (caudate) atrophy** - Atrophy of basal ganglia and brain stem - Cortical thinning - Degeneration and reduced volume of cerebellum - Resulting enlargement of ventricles
47
Huntington’s disease: pathological hallmarks
HTT inclusions: - Inclusions of mutant HTT protein found inside of neurons, intranuclear and cytoplasmic Loss of GABAergic medium spiny neurons: - Specific degeneration of MSNs in the striatum, the target of nigrostriatal DA neurons
48
Where do the degeneration of MSN happen?
Striatum; Target of Nigrostriatal DA neurons
49
What do GABA do?
Inhibit cortex; no control of motor neurons
50
Huntington’s disease: treatments
Symptomatic (motor symptoms): - Decrease DA signaling - Medication that reduce movement as side effect
51
What is the pattern of inheritance for the mutation in the Htt gene?
Autosomal dominant
52
Typical age of onset for HD is younger/older than AD or PD
Younger: 30-50 yrs old
53
What is the major pathological observation on gross examination in HD?
Striatal (caudate) atrophy
54
Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic: Muscle atrophy Lateral Sclerosis: Hardening of the spinal cord lateral columns
55
ALS: epidemiology
- Age of onset: average 55 - 32,000 people in the US living with ALS (450,000 worldwide) - Slightly more common in men - Most live 2 years after diagnosis - Earlier age of diagnosis => better prognosis
56
ALS: Risk factors
- Age - Sex - Family History (inherited dominantly) - Genetics: TARDBP(TDP-43)
57
ALS: environmental risk factors
Risk factors - **Smoking** Protective Factors: - Diet
58
ALS: Clinical symptoms
Skeletal and muscle: - Lower motor neuron signs - Upper motor neuron signs
59
Lower motor neuron signs
Spinal cord ==> Muscle - Muscle weakness - Muscle atrophy - Fasciculations
60
Upper motor neuron signs
Motor Cortex ==> Spinal Cord - Overactive reflexes (Babinski, Hoffman) - Spasticity - Difficulty chewing/swallowing - Psudobulbar effects - Slurred and nasal speech
61
ALS: pathology
- Degeneration of UMNs - Sclerosis of the pyramidal tracts - Degeneration of LMNs in spinal cord - Muscle atrophy
62
ALS: pathological hallmarks
Inclusions by appearance - Ubiquitinated inclusions Inclusions by protein - TDP-43 (95% of sporadic ALS have it)
63
ALS: FDA-approved treatments
Disease-modifying Symptomatic - Most just extent lifespan by 3-6 month - Can't take pills
64
What disease has the fastest progression after diagnosis (from the 4)
ALS
65
What 2 pathways degenerate in ALS?
Corticospinal and Corticalbulbar
66
ALS is characerized by
Degeneration of upper and lower motor neurons.

Patho (17 decks)

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