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huntingtons onset is between ages of _ and _
2-80 years of age. Average progression is 10-20 years with a peak onset between 30-50
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Huntingtons with rapid progression and early onset is known as
Juvenille Huntingtons
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give characteristics of each stage of HD
Early
Miuddle
Late
- Clumsy
- prominent chorea
- Severe chorea, akinetic, severe rigidity
Death due to choking
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Cognitive disorder characteristics
Early
Middle
Late
- Deficits in cognitive speed
- Difficulty using/understanding words
- Global impairment affecting memory
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Pathology of neurodegeneration most prominent in the
Striatum, progressive loss medium spiny projection GABA neurons
Loss of neurons in Globus Pallidus and subthalamic nucleus. Loss of neurons greatest leading to thalamus
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What happens to cause the "chorea-like" movements, talking inhibition wise.
Too much GABA inhibition on the next GABA neuron causes too much excitation to the thalamas which leads to cortex, spinal cord, then muscleds.
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HTT gene is found on chromosome
4
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The HTT gene is ____ dominant
autosomal
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HTT protein is involved in
Axona; vesicle transport, endocytosis, anti apoptosis, and gene transport
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T/F Huntington protein is a multidomain membrane protein with no significant homology to other known proteins.
False, cytoplasmic
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CAG repeats code for a series of _____
Glutamine PolyQ
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T/F If an individual has a number of CAG repeats is greater than 40, they might get huntingtons.
False, they WILL
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CAG repeat in Htt gene (is/is not) stable during intergenerational transmissions.
IS NOT
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T/F most of the time the htt gene only changes 1 repeat per generation.
True
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If someones CAG repeat is 32, will they develop HD?
No, but frequency of expansion will greatly increase with Intergenerational transmissions
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Most individuals have how many repeats in the CAG
11-26 with a median of 18
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Paternal expansion of CAG is (more/less) common than maternal expansion.
More, possibly due to spermatogenesis?
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Possible mechanism for repeats include the following: (4)
- Aggregation
- Reduced gene transcription
- Cellular dysfunction
- Apoptosis
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T/F mutant huntington in striatal neurons have longer polyglutamine repeats.
True
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T/F without a family history, it is not difficult to diagnose someone with HD.
False, it is difficult.
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Drug to reduce chorea like movements
Haloperidol
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