12 Questions
What is the specific amino acid coded by the CAG repeat found in Huntington disease patients?
Glutamine
Why is Huntington disease considered an autosomal dominant genetic disorder?
One affected copy of the gene is enough to cause the disease.
In a typical scenario, what is the chance that an affected individual with Huntington disease will pass on the affected gene to their child?
50%
What part of the brain is notably affected by neuronal cell death in Huntington disease?
Basal ganglia
What is excitotoxicity believed to cause in neuronal cells in Huntington disease?
Excessive signaling leading to cell death
What makes Huntington disease more specifically classified as a 'polyglutamine' disease?
'CAG' repeat expansion leading to multiple glutamines
What is the term used to describe the phenomenon where Huntington disease families often show earlier symptom onset with each generation?
Anticipation
Why do individuals with 36-39 CAG repeats in the HTT gene show reduced penetrance?
Unknown reasons
Which brain areas are most affected in Huntington disease due to neuronal death, leading to movement problems like chorea?
Caudate and putamen
When does a person with 40+ CAG repeats in the HTT gene show 100% penetrance of Huntington disease?
Once they start having symptoms
What is the term for the process of adding more CAG repeats in the HTT gene, which occurs more frequently during sperm production?
Repeat expansion
Why is the lateral ventricle expansion observed in Huntington disease?
Result of brain tissue volume loss in the caudate and putamen
Learn about Huntington disease, a rare neurodegenerative disorder caused by a repeated sequence of DNA. Discover how the autosomal dominant genetic disorder affects individuals and its inheritance pattern across generations.
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