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Flashcards in ND - L6 Deck (14)
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1
Q

MN topics?

A
description
symptoms
diagnosis
prognosis
causes
genetics
current research
2
Q

description?

A

group of disease with commonality of MNs affected

UMN or LMN affected

3
Q

symptoms?

A
related to which neurons (UMN or LMN)
muscle twitching
muscle weakness
difficulty speaking
difficulty swallowing
tripping, stumbling, dropping things o progressive paralysis
decreased respiratory function
muscle atrophy
4
Q

diagnosis?

A

no celar diagnosis, clinical

5
Q

prognosis?

A

variable
wheelchair 1-2 years
death within 3-5 years

6
Q

treatments?

A

Riluzole “Rilutek” (daily)
marginal
adverse effects

7
Q

causes?

A

genetic factors? (10%)

sporadic (90%)

8
Q

genetic factors?

A
Cu/Zn superoxide dismutase
TDP43
optineurin
angiogenin
C9 or f72
9
Q

SOD?

A
equation....
every cell
major anti-oxidant
gain of function not loss of function
>100 mutations despite being small
10
Q

how does mutant sod cause MND?

A

aberrant pro-oxidant gain of function -may start generating superoxide radicals
protein misfolding
protein aggregation
mitochondrial dysfunction

11
Q

genetics type?

A

most autosomal dominant

12
Q

current research?

A

we do not know the definitive cause of motor neuron disease
we cannot accurately diagnose at an early stage!
there are no valid therapeutic options

13
Q

mouse models?

A

more mutant SOD1 = more pathology

with this drug more mutant SOD1 lead to mice getting better, drug contains copper

14
Q

Describe the SOD diagram

A

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