pathophysiology of MND

Question 1

what generally happens in MND?

Answer 1

loss of upper motor neuron control over lower motor neurones

loss of motor neurone supply to muscle fibres

Question 2

what threw pathological features of MND?

Answer 2

hyaline conglomerate inclusions

ubiquitinated inclusions

cell shrinkage/apoptotic morphology

Question 3

what percentage of MND is familial?

Answer 3

5% (FALS)

Question 4

what are genetic subtypes/defective mechanisms responsible for MND/ALS?

Answer 4

oxidative stress

RNA processing

endosomal trafficking and cell signallign

glutamate excitotoxcity

ubiquitin/protein degredation

cytoskeleton

other genetic factors

unknwon genes

Question 5

what does SOD1 mutations cause?

Answer 5

Abnormal free radical handling

protein misfolding/aggregation

mitochondrial dysfunction

altered expression of cellular genes (transcritome) and proteins (proteome)

alteration in the properties of neighbouring glial cells

Question 6

SOD1 mutations account for how many MND cases?

Answer 6

20% of famililal cases