Multiple sclerosis

Question 1

what is friedreich’s ataxia?

Answer 1

autosomal recessive
trinucleotide repeat on chr 9
disrupts froduction of frataxin: a protein in mitochondria. leads to accummulation of iron in the mitochondria and decreased oxidative phosphorylation, which in turn increases free radicals and damages/causes death of the cells, esp. neurones

Question 2

which parts of the nervous system are affected in friedreichs?

Answer 2

spinocerebellar tract - gives cerebllar signs

corticospinal tract + peripheral nerve damage: absent ankle jerks with extensor plantars

Question 3

what is mentation like in fridreichs?

Answer 3

mentation is normal

Question 4

does friedreichs cause UMN or LMN signs? why?

Answer 4

UMN but REFLEXES ABSENT due to coexisting peripheral neuropathy

Question 5

what are associated health problems with friedreichs?

Answer 5

pes cavus
kyphoscoliosis
cardiomyoppathy
diabetes
optic atrophy

Question 6

causes of spastic and ataxic paraparesis (UMN + cerebellar signs combined)

Answer 6

aspinocerebellar degeneration (genetic)
MS
syphilitic meningomyelitis
arnold-chiari malformtion
syringomyelia
infarction in the upper pons or internal capsule>>ataxic hemiparesis