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Motor System Diseases (Heffner)
neuro module 2
26
Medical
Professional
01/18/2010

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Cards

Term
causes of parkinsonism
Definition
1. idiopathic (Parkinson's Disease)
2. Hereditary
3. Postencephalitic
4. Toxic: MPTP, Cycad beans, pesticides/herbicides
5. head trauma (boxers)
Term
alpha-synuclein
Definition
Park 1
1. chromosome 4
2. affects phosphoprotein involved in synaptic vessel transport
3. early onset, autosomal dominant
Term
Parkin
Definition
Park 2
1. chromosome 6
2. normal parkin is a ubiquitin ligase
3. juvenile, autosomal recessive
Term
Parkinsonism as a mitochondrial disease
Definition
1. increased reactive oxygen species in mitochondria (mechanism of MPTP)
2. ROS lead to free radical formation, resulting in increased Mt membrane permeability and apoptosis
3. ROS inhibit ubiquitin-proteolysis system, increasing misfolded proteins
Term
misfolded protein response in Parkinsonism
Definition
1. mutations in chaperone proteins that assist in folding or free radicals cause misfolding
2. misfolded proteins are dysfunctional or may aggregate
3. this may lead to degradation or apoptosis
Term
role of reactive oxygen species in parkinsonism
Definition
1. urate is a natural antioxidant
2. pts with higher serum and CSF urates have lower risk for PD
Term
clinical features of parkinson's disease
Definition
1. onset 50-70 yrs
2. resting tremor, especially pill rolling
3. rigidity
4. bradykinesia
5. dementia sometimes late in course
6. disability in 10-15 yrs
Term
pathologic changes in parkinson's disease
Definition
1. loss of pigment in substantia nigra
2. injury to dopaminergic system - this loss of neurons causes the depigmentation
3. affects many nuclei that contain neuromelanin
4. Lewy bodies from inhibition of ubiquitin-proteolysis system
Term
neuroimaging findings in Parkinson's Disease
Definition
1. PET scanning used
2. signal loss in putamen - loss of substantia nigra projections to corpus striatum
Term
treatment strategies for Parkinson's Disease
Definition
1. antioxidants to combat ROS
2. co-enzyme Q to promote Mt integrity
3. dopamine agonists to stop apoptosis
->pramipexole works on D2 receptors
Term
Diffuse Lewy Body Disease
Definition
1. Dementia
2. Parkinsonian features
3. more rapid course than classic PD
4. Lewy bodies in cerebral cortex and brainstem
Term
clinical features of Progressive supranuclear palsy
Definition
1. sporadic disease aka atypical PD
2. onset 40-60 yrs, more common in men
3. wide-eyed vacant stare with a vertical gaze palsy (can't look up)
4. rigid, weak, spastic
5. dysarthria, dysphagia
6. dementia
7. progressive, fatal in 5 yrs
Term
pathology of Progressive supranuclear palsy
Definition
1. widespread loss of neurons in the cerebral cortex, globus pallidus, substantia nigra, colliculi, periaqueductal grey, and brainstem nuclei
2. Neurofibrillary tangles in neurons and glia - huge and round
3. globose NFTs found on silver stain and tau stain - large and bulbous
Term
genetics of Huntington's disease
Definition
1. autosomal dominant
2. chromosome 4
3. gene product is huntingtin (polyglutamate region)- increased CAG repeats (trinucleotide repeats)
4. increased glutamine segments causes abnormally shaped protein that is dysfunctional
5. normal protein prevents apoptosis of neurons (mutation = accelerated death)
Term
clinical features of Huntington's Disease
Definition
1. age of onset 30-50 yrs
2. choreiform movements
3. personality changes
4. dementia late stages
5. 15 yrs survival after diagnosis
Term
pathologic features of Huntington's Disease
Definition
1. atrophy of caudate nucleus and putamen as well as cortex
2. atrophy of small GABA-ergic neurons
3. Huntingtin inclusions - intranuclear inclusions within neurons that contain the mutant protein - not seen with H&E, need immunostain
Term
clinical features of Friedreich's ataxia
Definition
1. onset in older children and young adults
2. staggering ataxic gait
3. dysarthria, nystagmus
4. decreased vibratory sensation and proprioception
5. Babinski responses and weakness
6. increased incidence of diabetes (30% of pts)
7. 15 yr survival after diagnosis
Term
genetics of Friedreich's ataxia
Definition
1. possibly due to impaired Mt function
2. Chromosome 9
3. gene product is frataxin - increased GAA repeats
4. regulation of protein synthesis is altered and there is a shortage of frataxin
5. normal protein located on inner Membrane, maintenance of Mt genome
Term
pathologic features of Friedreich's ataxia
Definition
1. cerebellar cortical atrophy
2. damage to posterior and lateral columns
3. cardiomyopathy, myocarditis giving rise to CHF and arrhythmias
Term
Spinocerebellar degenerations
Definition
1. several types
2. autosomal dominant
3. usually caused by increased CAG repeats (polyglutamate regions)
Term
genetics of Amyotrophic Lateral Sclerosis
Definition
1. 90% idiopathic
2. familial cases have dominant inheritance - juvenile onset
3. Super Oxide Dismutase (SOD) disease locus on chromosome 21 - neruons killed by free radicals normally eliminated by SOD
Term
pathogenesis of sporadic ALS
Definition
1. intracytoplasmic inclusions of TDP-42 (DNA binding protein)
2. TDP-43 normally prevents apoptosis
Term
clinical features of ALS
Definition
1. onset age 30-60 yrs
2. UMN/LMN disease
3. muscular weakness, begins distally - facial muscles spared
4. atrophy and fasciculations
5. hyperactive reflexes
6. Babinski responses
7. progressive course with 3-5 year survival
Term
pathologic features of ALS
Definition
1. small atrophic anterior roots
2. Wallerian degeneration of pyramidal tracts
3. loss of motor neurons with central chromatolysis
4. Bunina bodies in cytoplasm of motor nuerons - round, red, autophagic vacuoles - suggests accelerated neuron death
Term
poliomyelitis
Definition
1. due to picornavirus
2. onset in older children adn young adults, when virus is neurotropic
3. acute paralysis: legs>arms, sometimes bulbar or respiratory muscles
4. most pts recover in 6 months
Term
pathologic features of polio
Definition
neuronophagia, lymphocytic cuffing

old polio: loss of anterior horn cells and gliosis
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