ND - L6 Flashcards
MN topics?
description symptoms diagnosis prognosis causes genetics current research
description?
group of disease with commonality of MNs affected
UMN or LMN affected
symptoms?
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
diagnosis?
no celar diagnosis, clinical
prognosis?
variable
wheelchair 1-2 years
death within 3-5 years
treatments?
Riluzole “Rilutek” (daily)
marginal
adverse effects
causes?
genetic factors? (10%)
sporadic (90%)
genetic factors?
Cu/Zn superoxide dismutase TDP43 optineurin angiogenin C9 or f72
SOD?
equation.... every cell major anti-oxidant gain of function not loss of function >100 mutations despite being small
how does mutant sod cause MND?
aberrant pro-oxidant gain of function -may start generating superoxide radicals
protein misfolding
protein aggregation
mitochondrial dysfunction
genetics type?
most autosomal dominant
current research?
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
mouse models?
more mutant SOD1 = more pathology
with this drug more mutant SOD1 lead to mice getting better, drug contains copper
Describe the SOD diagram
-
