ALS

Question 1

What is ALS?

Answer 1

Amyotrophic Lateral Sclerosis
- Neurodegeneration of upper and lower motor neurons
- Protien aggregates inside neurons
- clumps of proteins -> PRIONS
- Normally, Glutamate is recycled by astrocytes. In ALS, there is a defect in the astrocyte transport protein -> glutamate builds up in synapse -> irritates the accepting neuron (oxidative stress) -> Prions (clumps of proteins) get out and can infect other neurons -> glial cells come across these prions and set the cytokine inflammation alarm

Question 2

TDP-43, SOD1, FUS proteins =

Answer 2

ALS & PRIONS
These are the proteins that build up and form PRIONS

Question 3

ALS is caused by the mutation of the ____ AA transporter on astrocytes

Answer 3

EAAT2

Question 4

MC Inheritance pattern of ALS

Answer 4

Sporadic > Familial

Sporadic white old men that smoke

Question 5

Upper vs Lower Motor Neuron SS

Answer 5

• Upper = Weakness, Slow, Hyperreflexia, Spasticity
• Lower = Weak, Atrophy, Fasciulations

fasiculations = involuntary rapid muscle twitches that are too weak to move a limb but are easily felt by patients and seen by clinicians.

Question 6

ALS-plus syndrome = classical ALS + other features. What is MC other feature?

Answer 6

Frontotemporal dementia

Question 7

ALS Tx

Answer 7

• Riluzole (glutamate inhibitor)
• Edaravone (Free radical scavenger)
• Relyvrio (histone deacetylase inhibitor)
• Tofersen (Antisense oligonucleotide)

Question 8

Which ALS Tx must be injected into the spinalcord?

Answer 8

Tofersen (Qalsody)

Question 8

1st line pharm Tx for ALS

Answer 8

Riluzole (Rilutek)
- glutamate release inhibitor -> slows dz progression

Question 8

Are upper or lower motor neuron ss a WORSE Px indicator?

Answer 8

LOWER = BAD Px

Weak, atrophy, fasiculations

Question 9

is mild obesity and early onset (<40yo) a better or worse Px indicator for ALS?

Answer 9

BETTER Px

Question 10

is Hyporeflexia an upper or lower motor neuron ss?

Answer 10

LOWER