4b. Motor Neuron Disease Flashcards

1
Q

what is motor neuron disease also known as

A

amyotrophic lateral sclerosis

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2
Q

what does amyotrophic refer to

A

muscle atrophy, weakness and muscle twitches that signify disease of the lower motor neurons

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3
Q

what does lateral sclerosis refer to

A

the glial scar in the lateral columns of the spinal cord found in autopsy

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4
Q

name 4 symptoms of MND

A

muscle atrophy
difficulty speaking, swallowing
difficulty breathing
muscle weakness

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5
Q

what happens to cognitive function in MND

A

it is often spared

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6
Q

how many cases of MND develop a type of dementia

A

10%

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7
Q

where do motor neurons originate and where do they project to

A

originate in the motor cortex and travel down to the brainstem and the spinal cord

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8
Q

where do lower motor neurons begin and what do they innervate

A

begin in the spinal cord and innervate muscles throughout the body

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9
Q

what is the sex bias in MND

A

1.6: 1

males to female

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10
Q

at what age does MND normally occur

A

late middle age - 60-70 years old

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11
Q

what is the incidence of MND

A

1.5-2.0/100,000

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12
Q

how long do people normally live with MND

A

3-5 years

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13
Q

how long did prof Stephen Hawkins live with MND

A

almost 50 years!

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14
Q

do genetic mutations cause a lot of MND

A

no - only a minority of cases

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15
Q

describe a genetic mutation that accounts for 38% of MND

A

C9ORF72

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16
Q

what does C9ORF72 stand for?

A

chromosome 9, open reading frame 72

17
Q

what is a normal number of repeats in C9ORF72

A

less than 23

18
Q

how many repeats in mutant C9ORF72

A

over 30

19
Q

name an environmental risk factor for MND

A

BMAA

20
Q

why is BMAA dangerous

A

BMAA is a glutamate agonist so encouraged glutamate excitotoxicity

21
Q

name 2 occupations that increase risk of MND

A

farmers
military
professional athletes

22
Q

what lifestyle factors can increase the risk of MND

A

head trauma
smoking
obesity

23
Q

is MND an intracellular or an extracellular pathology

A

an intracellular pathology characterised by intraneuronal inclusions

24
Q

name 4 of the constituents of intraneuronal inclusions

A

TDP-43
Ubiquitin
bunion bodies
SOD1 or FUS aggregates

25
Q

name the two approved treatments of MND

A

riluzole and edarvone

26
Q

how does riluzole work

A

a glutamate antagonist

27
Q

how does edaravone work

A

it is an antioxidant and free-radical scavenger that delays motor deterioration

28
Q

what treatments are in the pipeline for MND

A

drugs that combat excitotoxicity, neuroinflammation, apoptosis and stem cell therapy