USMLE Step 1 Question of the Day
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USMLE Step 1 Questions
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A patient with chorea and dementia is diagnosed with Huntington’s Disease. Which of the following correctly describes the genetic abnormality present in this patient?
Correct Answer: B. Expansion of CAG repeats on Chromosome 4
Huntington’s Disease is a classic trinucleotide repeat disorder (B), where there is an expansion of CAG repeats on Chromosome 4.
Huntington’s is inherited autosomal dominantly (not X-linked [E]) and involves atrophy of cholinergic and GABAergic neurons in the caudate.
HOX genes (A) are responsible for general anterior-posterior patterning of the nervous system; diruption of proper HOX regulation would result in developmental disorders.
The APOE4 allele (C) and p-App (D) genes are both associated with the familial form of Alzheimer’s disease.
1. QuestionCategory: Genetics
A patient with chorea and dementia is diagnosed with Huntington’s Disease. Which of the following correctly describes the genetic abnormality present in this patient?Correct