4b. Motor Neuron Disease Flashcards
what is motor neuron disease also known as
amyotrophic lateral sclerosis
what does amyotrophic refer to
muscle atrophy, weakness and muscle twitches that signify disease of the lower motor neurons
what does lateral sclerosis refer to
the glial scar in the lateral columns of the spinal cord found in autopsy
name 4 symptoms of MND
muscle atrophy
difficulty speaking, swallowing
difficulty breathing
muscle weakness
what happens to cognitive function in MND
it is often spared
how many cases of MND develop a type of dementia
10%
where do motor neurons originate and where do they project to
originate in the motor cortex and travel down to the brainstem and the spinal cord
where do lower motor neurons begin and what do they innervate
begin in the spinal cord and innervate muscles throughout the body
what is the sex bias in MND
1.6: 1
males to female
at what age does MND normally occur
late middle age - 60-70 years old
what is the incidence of MND
1.5-2.0/100,000
how long do people normally live with MND
3-5 years
how long did prof Stephen Hawkins live with MND
almost 50 years!
do genetic mutations cause a lot of MND
no - only a minority of cases
describe a genetic mutation that accounts for 38% of MND
C9ORF72
what does C9ORF72 stand for?
chromosome 9, open reading frame 72
what is a normal number of repeats in C9ORF72
less than 23
how many repeats in mutant C9ORF72
over 30
name an environmental risk factor for MND
BMAA
why is BMAA dangerous
BMAA is a glutamate agonist so encouraged glutamate excitotoxicity
name 2 occupations that increase risk of MND
farmers
military
professional athletes
what lifestyle factors can increase the risk of MND
head trauma
smoking
obesity
is MND an intracellular or an extracellular pathology
an intracellular pathology characterised by intraneuronal inclusions
name 4 of the constituents of intraneuronal inclusions
TDP-43
Ubiquitin
bunion bodies
SOD1 or FUS aggregates
name the two approved treatments of MND
riluzole and edarvone
how does riluzole work
a glutamate antagonist
how does edaravone work
it is an antioxidant and free-radical scavenger that delays motor deterioration
what treatments are in the pipeline for MND
drugs that combat excitotoxicity, neuroinflammation, apoptosis and stem cell therapy
