Amyotrophic Lateral Sclerosis And Other Motor Neuron Disease

Question 1

Marker of degeneration present in ALS.

Answer 1

Ubiquitin

Question 2

Most common form of progressive motor neuron disease

Answer 2

Amyotrophic lateral sclerosis

Question 3

What is the characteristic of AML?

Answer 3

1. Both motor neurons (upper &lower) eventually becomes implicated.
2. Takes symmetric distribution eventually.
3. Preserved: sensory, bowel & bladder and cognitive functions, ocular motility

Question 4

Gene mutations that most commonly cause familial ALS ( FALS)?

Answer 4

1. SOD1 - cytosolic enzyme for superoxide desmutase (20%)
2. TDP43 - RNA binding proteins - encoded but TAR DNA binding protein gene (5%)
3. FUS/TLS - fused in sarcoma/translocated in liposarcoma (5%)

Question 5

A guanine-exchange factor expressed due to a mutation causing some childhood onset motor neuron disease, which is predominantly involve the upper motor neuron and starts in the first decade.

Answer 5

Alsin

Question 6

An X - linked, adult onset disorder that mimics ALS?

Answer 6

Kennedy’s syndrome

Question 7

Familial ALS is inherited as an?

Answer 7

Autosomal dominant trait

Question 8

Causes of acute sporadic motor neuron disease?

Answer 8

1. Poliomyelitis
2. Herpes zoster
3. Coxsackie virus

Question 9

Chronic sporadic motor neuron disease presenting with predominantly upper motor neuron.

Answer 9

Primary lateral sclerosis

Question 10

Chronic sporadic motor neuron disease presenting with upper and lower motor neuron defect.

Answer 10

Amyotrophic lateral sclerosis

Question 11

An infantile a-glucosidase deficiency causing motor neuron disorder.

Answer 11

Pompe’s disease

Question 12

Motor neuron disorder caused by androgen receptor defect?

Answer 12

Kennedy’s disease

Question 13

Pathogenesis of ALS?

Answer 13

• presence of excitatory neurotransmitter (glutamate) participate in death of motor neurons in ALS
• diminished uptake of synaptic glutamate by an astroglial glutamate transporter (EA AT2).

** SOD1 - detoxifies the free radical superoxide anion

Question 14

An ALS variant of juvenile onset involving mainly the musculature innervated by the brainstem.

Answer 14

Fazio - Londe syndrome

Question 15

Gene most commonly implicated in dominantly inherited familial spastic paraplegia (FSP)?

Answer 15

Spastin

Question 16

The most common childhood-onset dominant form arise from mutation in this gene?

Answer 16

Atlastin gene

Question 17

A widespread disorder of CNS myelin.
Occurs as mutation in the gene for myelin proteolipid protein.
An infantile-onset form of X-linked, recessive FSP.

Answer 17

Pelizaeus-Merzbacher disease

Question 18

Drug approved for ALS due to modest lengthening of survival.

It reduces excitotoxicity by diminishing glutamate release.

Answer 18

Riluzole 100mg/d

Question 19

This drug used as treatment for ALS which augments astroglial glutamate transport and is anti-excitotoxic?

Answer 19

Ceftriaxone

Question 20

Neuroprotective drugs used as treatment for ALS?

Answer 20

Pramipexole

Tamoxifen

Question 21

A lower motor neuron defect with the earliest onset (before birth) indicated by decreased fetal movement in late third trimester.

It has the most fatal course.

Answer 21

Infantile SMA

• SMA I
• Werdnig-Hoffmann disease

Question 22

A spinal muscle atrophy manifested in late childhood wherein weakness is greatest in the proximal muscle.

Answer 22

Juvenile SMA

• SMA III
• Kugelberg-Welander disease

Question 23

French eponym for amyotrophic lateral disease.

Answer 23

Charcot’s disease

Question 24

Treatment for multifactorial motor neuropathy with conduction block

Answer 24

IV immunoglobulin

Chemotherapy

Question 25

These are parasympathetic neurons in the sacral spinal cord that innervates the sphincters of the bowel and bladder.

Answer 25

Nucleus of Onufrowicz
or
Onuf