Term
| What are the common features of neurodegenerative diseases |
|
Definition
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Term
| What is the main energy source of neurons? Why is this important? |
|
Definition
1. The mitochrondria (oxidative phosphorylation)
2. Because mitochrondria dysfunction is a pathogenic feature of neurodegenerative diseases |
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Term
| What are the pathogenic features of neurodegenerative diseases |
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Definition
1. Mitochondria dysfunction
2. Apoptosis
3. Immune response
4. Aging |
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Term
| Intracellular or extracellular protein aggregates are since in alzheimers? |
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Definition
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Term
| In most degenerative disease abnormal protein aggregates are intracellular or extracllular |
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Definition
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Term
| What are the 2 most common clinical manifestations of neurodegenerative diseases? |
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Definition
1. Dementia
2. Parkinsonism |
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Term
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Definition
| Deterioration of cognitive abilities that hinder performance of a previous successful performed daily activity |
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Term
| In dementia what is affect most? |
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Definition
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Term
| What's the most common cause of Dementia in the U.S? How about most countries? |
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Definition
| Alzheimers in the U.S and cerebral vascular disease in most countries |
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Term
| What are the symptoms of parkinsonism |
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Definition
| Bradykinesia, resting tremors & ridigity |
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Term
| Name the 2 structures that are affected in parkinson disease |
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Definition
1. Substantia nigra in the midbrain
2. Locus ceruleus in the pons |
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Term
| What are the histological characteristics of parkinson's disease |
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Definition
1. Gross pallor (lack of pigmentation)
2. Neuronal loss & gliosis
3. Lewy bodies in the surviving neurons |
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Term
What is wrong w/ this patient, abnormal on the left [image] [image][image] |
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Definition
| They have parkson's disease, you could tell by the lack of pigment of the substantia nigra |
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Term
What is this cell? What condition would you find it in? [image] |
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Definition
| It's a Lowy body found in Parkinsons disease |
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Term
| What are the histological characteristics of a Lowy body? |
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Definition
| Round, eosinophilic intraneuronal inclusions w/ a pale halo |
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Term
| What is the main component of a lowy body? What is usually present? |
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Definition
| Alpha-synuclein w/ ubiquitin present |
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Term
| What kind of neurons does Parkinsons affect? |
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Definition
| Loss of dopaminegic neurons in the brainstem |
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Term
| In parkinson's disease there is a ______ deficency in the caudate & putamen |
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Definition
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Term
| Name the 3 familial Parkinson deficent proteins and there mode of inheritance |
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Definition
1. Leucine rick kinase 2 (LRRK2): autosomal dominant 2. Alpha synuclein: Autostomal dominant 3. Parkin: Autosomal recessive |
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Term
| Gve the typical presentation of Parkinson's disease and age of onset |
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Definition
1. Difficulty in initiating motion 2. Face becomes so immobile might not be recognizable 3. 60 years of age |
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Term
| What is the common neurological disorders w/ Parkinsonism |
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Definition
| 1. Demential w/ Lewy bodies |
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Term
| Name the 3 uncommon Neurodegenerative disorders w/ Parkinsons |
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Definition
1. Progressive supranuclear palsy 2. Corticobasal degeneratoin 3. Multisystem atrophy |
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Term
| Give the pathological characteristics of Alzhemiers |
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Definition
1. Diffuse cerebral atrophy 2. Ventricular dilatation 3. Affects the Frontal, parietal, temporal & spares the occipital lobe |
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Term
| What are the histological findings one would find in alzheimer's disease |
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Definition
1. Neuronal loss & gliosis 2. Senile plaques 3. Neurofibrillary tangles 4. Amyloid angiopathy 5. Granular vascuolar degeneration 6. Hirano bodies |
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Term
|
Definition
| beta amyloid core surrounded by neuritic plaques |
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Term
| What is this an image of? What does this person most likely have[image] |
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Definition
| Senile plaque, might have alzheimers |
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Term
| Neurofibrillary tangles are found where in the neuron |
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Definition
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Term
| Where in the brain are you expect to find neurofibrillary tangles in a alzheimers patient |
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Definition
1. Cerebral cortex 2. Hippocampus 3. Basal ganglia |
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Term
| Neurofibrillary tanges consist of |
|
Definition
| Paired helical fialments and Hyperphosphorylated tau protein |
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Term
What is this image of? In what patient are you most likely to find them in [image] |
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Definition
| Neurofibril tangles found in alzheimer's patients |
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|
Term
| What criteria do you use to diagnosis an alzheimer's patient |
|
Definition
|
|
Term
| What amyloid protein prodominates in plaques? |
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Definition
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Term
| Ab42 is cleaved from a longer percursor AbPP due to which protein and why? |
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Definition
| Presenilin protein has gamma secretase activity |
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Term
| In Alzheimer's disease there is a loss of neruons in _____ _____ affecting memory and a loss of ______ |
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Definition
| nucleus basalia & synpases |
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Term
| Is alzheimer's disease familial? |
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Definition
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|
Term
| What king of inheritance is alzheimer's disease when it's familial |
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Definition
|
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Term
| Name the genes mutated in familial alzheimers and how common are they |
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Definition
| 1. AbPP (uncommon) 2. Presenillin protein 1 (common) 3. PSP2 (uncommon) |
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Term
| Apo E epsilon 4 increases the risk of _______ __ |
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Definition
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Term
| What are the pathological features of picks disease |
|
Definition
1. Marked atrophy of frontal & temporal lobe
2. Neuronal loss in cortical layers 1, 2 & 3
3. Pick bodies found in surviving neurons |
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Term
| How does a brain look like in a huntingtons patient |
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Definition
| Small brain w/ dilated ventricles |
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Term
| In huntingtons disease what has atrophied |
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Definition
|
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Term
| What kind of neural transmitter has been lost in huntingtons? |
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Definition
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Term
| Which DNA sequence is repeated in huntingtons disease |
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Definition
|
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Term
| Why does a high CAG nuclear repeat give huntingtons disease |
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Definition
| An increased polyglutamine has a increase tendency to aggregate |
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Term
| What is the results of the loss of GABA in huntingtons disease |
|
Definition
| Subthalamic nucleus is no longer inhibited |
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Term
| Huntingtons disease is autosomal _______ and has an onset in the __ or __ decade that leads to dementia and death |
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Definition
| Dominant and 4th or 5th decade |
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Term
| Patients that have dementia w/ lewy body has features of what? |
|
Definition
|
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Term
| What is the second most common cause of dementia in hospitalized patients |
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Definition
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Term
| In patients w/ Dementia w/ Lewy bodies, the lewy bodies are seen where? |
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Definition
| Substantia Nigra, Locus Cerillus & cerebral cortex |
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Term
| What are the clinical symptoms of Huntingtons |
|
Definition
1. Progressive dementia
2. Recurrent visual hallucinations, fluctuating cognition & parkinsonism |
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Term
| In frontotemporal dementia what is atropied and what is affected |
|
Definition
Frontal and temporal lobes
Personality & language |
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Term
| In friedreich ataxia neuronal loss is where? What other features are present |
|
Definition
1. Clarks column (SC), brainstem, cerebellum & dorsal root ganglia
2. Axonal loss and gliosis
3. Myocarditis |
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Term
| Frataxin protein is found where? |
|
Definition
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|
Term
| Friedreich ataxia what is the genetic sequence repeat responsible for the disease |
|
Definition
|
|
Term
| How many repeats do you need to have early onset of Friedreich? How about late onset? |
|
Definition
|
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Term
| Friedreich ataxia is autosomal _______ w/ onset in the ___ decade in severe cases |
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Definition
|
|
Term
| What are the clinical features of Friedreich ataxia |
|
Definition
1. Gait ataxia, clumsiness, dysarthria
2. Pes cavus, kyphoscoliosis |
|
|
Term
| What are some of the complications of Friedreich ataxia |
|
Definition
1. Diabetes mellitus
2. Heart failure
3. Death usually w/in 5 years |
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Term
| Ataxia-telangiectasia leads to the loss of ______ & _____ w/ degeneration of dorsal column __________ _____ |
|
Definition
1. Purkinje and granular cells
2. Spinocerebellar tracts |
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Term
| Where is Telangiectasias seen in Ataxia-telangiectasia |
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Definition
|
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Term
| What are the features of Ataxia-telangiectasia |
|
Definition
1. Enlarged nuclei in Schwann cells, pituitcytes, endothelium
2. Telangiectasias in the CNS, conjunctivae and skin
3. Hypoplasia of thymus, lymph nodes & gonads |
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Term
| What gene is deficent in Ataxia-telangiectasia and why is this important |
|
Definition
| ATM gene produces a product that arrest the cell cycle when the DNA is damaged |
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Term
| What kind of inheritance is Ataxia-telangiectasia |
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Definition
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Term
| If you have a patient w/ recurrent sinopulmonary infections, Gait ataxis and is a female what should you worry about? |
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Definition
| Ataxia telangiectasia, there is an increase risk of breast cancer |
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|
Term
| Amyotrophic lateral sclerosis is a _____ ____ disease |
|
Definition
|
|
Term
| What are the pathogenic features of Amyotrophic lateral sclerosis |
|
Definition
Loss of anterior horn cells
Gliosis & loss of myelinated fibers |
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|
Term
In motor neuron diseases would you see atrophy of what? |
|
Definition
| Anterior roots and supplied muscle |
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|
Term
| What kind of mutation is involved in Amyotrophic lateral sclerosis & you see loss of what? What does this lead to? |
|
Definition
Gain of function SOD1 mutation Loss of motor neurons leading to muscle atrophy |
|
|
Term
| What are the clinical symptoms of Amyotrophic lateral sclerosis |
|
Definition
1. Weakness
2. Muscle atrophy
3. Fasciculations
4. Respiratory distress
5. Usually fatal w/in 2-5 years |
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|
Term
| What are the clinical features of Bulbospinal atrophy |
|
Definition
1. Atrophy & fasciculation of tongue
2. Dysphagia
3. Gynecomastia, testicular atrophy & azzospermia |
|
|
Term
| What are the 3 expanding repeat diseases |
|
Definition
Huntingtons
Friedreich ataxia
Bulbospinal atrophy |
|
|
Term
| You see degeneration of ____ in bulbospinal atrophy |
|
Definition
|
|
Term
| There is a CAG repeat in _____ receptor gene in Bulbospinal atrophy |
|
Definition
|
|
Term
| What is the mode of inheritance of Bulbospinal atrophy |
|
Definition
|
|
Term
|
Definition
1. Multiple sclerosis
2. Acute disseminated encephalomyelitis
3. metachromatic leukodystropy
4. Krabbe disease |
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|
Term
| If you have a first degree relative w/ MS what is the increased risk |
|
Definition
|
|
Term
| Which locus is suspectible in MS |
|
Definition
|
|
Term
| How do the oligodendrites become injuried in MS |
|
Definition
|
|
Term
| Where are the plaques found in MS? how does the brain look |
|
Definition
White matter
Firmer than unfixed brain |
|
|
Term
| Name the places that Multiple sclerosis plaques appear |
|
Definition
1. Optic nerve (common)
2. Adjacent to lateral ventricles
3. Cerebellum
4. Brain stem long tracts
5. Spinal cord |
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|
Term
A patient most likely suffered from [image] |
|
Definition
|
|
Term
|
Definition
1. Remissions and relapses are common, progression course not common 2. Optic neuritis 3. CSF oligoclonal bands |
|
|
Term
| Acute disseminated encephalomyelitis is characterizied by |
|
Definition
| Perivascular myelin loss & inflammation |
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|
Term
| Acute necrotizing hemorrhagic encephalomyelitis lesions are simliar to ____ but more destructive |
|
Definition
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|
Term
| Acute necrotizing hemorrhagic encephalomyeltis usually follows ____. Is it fatal? |
|
Definition
| URI and it is often fatal |
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|
Term
| In metachromatic leukdystrophy you could find decreased mylein in |
|
Definition
|
|
Term
What kind of cell is this? Where would you find it? [image] |
|
Definition
| Macrophage w/ metachromatic material found in Metachromatic leukodystrophy |
|
|
Term
| Metachromatic leukodystrophy is an autosomal recessive deficiency of ____ ______ _ and an accumulation of _______ _____ |
|
Definition
aryl sulfatase A Cerebroside sulfate |
|
|
Term
| How does metachromatic leukodystrophy present |
|
Definition
childhood onset w/ motor symptoms & early death
Adult onset w/ psychiatric symptoms |
|
|
Term
|
Definition
| Decrease CNS & PNS myleination |
|
|
Term
[image] You're like to see this in |
|
Definition
| This is a Globoid cell multinucleated macrophage seen in Krabbe disease |
|
|
Term
| Krabbe disease is a autosomal recessive deficieny of |
|
Definition
| galactocerebroside b galactosidease |
|
|
Term
| How does Krabbe disease present |
|
Definition
1. Motor signs 2. Feeding difficulties 3. Death by age 2 |
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