Neurodegeneration Flashcards
(21 cards)
What are the 8 hallmarks of neurodegenerative disease?
- Pathological protein aggregation
- Synaptic and neuronal network dysfunction
- Aberrant proteostasis
- Cytoskeletal abnormalities
- Altered energy homeostasis
- DNA and RNA defects
- Inflammation
- Neuronal cell death
ALS involves the loss of which motor neurons - upper or lower?
Both
What percentage of ALS cases are genetic and what percentage are sporadic?
10% genetic
90% sporadic
Which gender is more likely to get sporadic ALS?
Males
What is the average age of onset of ALS?
Middle-to-late 50s
What is the life expectancy of ALS from symptom onset?
2-5 years
Which misfolded protein is involved in ALS?
SOD1
What are the 5 most common neurodegenerative diseases?
Alzheimer’s disease
Parkinson’s disease
Multiple sclerosis
Huntington’s disease
Amyotrophic lateral sclerosis
Which 2 areas of the spinal cord are affected in ALS?
Corticospinal tract
Anterior roots
Friedrich’s ataxia is due to mutations in which gene?
FXN
What does the FXN gene code for?
What is this required for?
Frataxin
Protein required for proper functioning of mitochondria
Which specific mutation is found in most cases of FXN gene mutation in Friedrich’s ataxia?
GAA trinucleotide repeat
Lack of frataxin causes the accumulation of what in mitochondria?
Iron
Guillain-Barre syndrome is triggered by which infection?
Campylobacter jejuni
What are the 2 subtypes of Guillain-Barre syndrome?
Acute inflammatory demyelinating polyneuropathy (AIDP)
Acute motor axonal neuropathy (AMAN)
What are the sensory and motor losses in AIDP + AMAN?
AIDP - sensory and motor loss
AMAN - motor loss only
How does campylobacter jejuni cause GBS?
Bacteria use molecular mimicry to cause host antibodies to target gangliosides on neurons which are similar to their lipooligosaccharides present in the outer membrane of the bacteria
Which 2 gangliosides are implicated in GBS?
GM1
GD1a
What is the most common prion disease in humans?
Sporadic Creutzfeldt-Jakob disease (sCJD)
What is often the first neurological sign of MS?
Optic neuritis
Does the demyelination in MS affect CNS or PNS?
CNS
