Clinical Perspective - Amyotrophic Lateral Sclerosis Diagnosis & Management

Question 1

What is the predominant theory for neuronal degeneration in ALS?

Answer 1

Retrograde degradation - beginning at the NMJ and working backward to the CNS

Question 2

What is the primary drug to treat non-familial causes of ALS?

Answer 2

Riluzole

Question 3

Motor neurons supplying what structures are spared in ALS?

Answer 3

Extra-ocular muscles and the bladder

Question 4

True/False. ALS presents with motor and sensory deficits.

Answer 4

False. ALS presents only with motor deficits. Sensory deficits are not present

Question 5

ALS is most associated with the loss of motor neurons affecting the (limbs/trunk/both).

Answer 5

Limbs are most affected. The truck is rarely impacted. Inappropriate responses, nasal speech, and difficulty swallowing may also occur

Question 6

When during life does ALS generally present?

Answer 6

During 30s or 40s

Question 7

What characteristics may be found on a positive EMG for ALS?

Answer 7

Increased insertion activity, fasciculation potentials, giant amplitude, positive sharp waves, no sensory deficits

Question 8

What biomarkers are associated with ALS diagnosis?

Answer 8

SOD gene mutation, neurofilaments in plasma, phosphorylated, tau proteins

Question 9

The process by which the flow of nutrients along an axon may become blocked by the accumulation of proteins is called…?

Answer 9

Axon strangulation - this is one mechanism of neuron death in ALS

Question 10

What is the MOA of Riluzole for the treatment of ALS?

Answer 10

NMDA receptor antagonist that inhibits glutamate release

Question 11

What microscopic pathological changes are present in patients with ALS?

Answer 11

Astrocyte proliferation, microglial activation, ubiquitinated inclusions (called Bunina Bodies)

Question 12

What is the early clinical presentation of ALS?

Answer 12

Begins with muscle fasciculations and atrophy, followed by muscle weakness and fatigue

Question 13

True/False. ALS is a condition with primarily genetic etiology.

Answer 13

False. While ALS has been linked to a gene on Chromosome 21, most cases are sporadic and not genetic

Question 14

Approximately 20% of ALS cases have genetic etiology. Nearly all of these genetic mutations are (dominant/recessive) traits.

Answer 14

Dominant traits associated with SOD1 gene

Question 15

What drug may be used to treat specifically familial ALS with the SOD1 gene mutation?

Answer 15

Tofersen

Question 16

Amyotrophic Lateral Sclerosis (ALS) is a disease of what nervous structure?

Answer 16

Degeneration of motor neurons

Question 17

What are the six mechanisms of neuron death in ALS?

Answer 17

Excitotoxicity, axon strangulation, glial cell dysfunction, enzyme dysfunction, proteasome dysfunction, mitochondria dysfunction