WBR0369

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Author [[PageAuthor::Gonzalo A. Romero, M.D. [1]]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Biochemistry, MainCategory::Pathology, MainCategory::Pathophysiology
Sub Category SubCategory::Neurology
Prompt [[Prompt::A research lab develops a new knock-in mouse model with a chimeric mouse/human exon containing 140 CAG repeats inserted into a gene located on the short arm of chromosome 4. The mice are grown and observed for 18 months. All mice develop increased locomotor activity and abnormal posturing around 1 month of age, followed by hypoactivity at 4 months and gait abnormalities at 1 year. Which of the following neurochemical changes is associated with this syndrome?]]
Answer A AnswerA::Decreased norepinephrine, Decreased serotonin, Decreased dopamine
Answer A Explanation [[AnswerAExp::These are the neurotransmitter changes associated in depression]]
Answer B AnswerB::Increased norepinephrine, Increased serotonin, Increased dopamine
Answer B Explanation [[AnswerBExp::This is seen in schizophrenia]]
Answer C AnswerC::Increased acetylcholine, Increased serotonin, Decreased dopamine
Answer C Explanation [[AnswerCExp::These changes are seen in parkinson’s disease]]
Answer D AnswerD::Decreased GABA, Decreased acetylcholine, Increased dopamine
Answer D Explanation AnswerDExp::These changes are associated with Huntington disease.
Answer E AnswerE::Increased norepinephrine, Decreased GABA, Decreased serotonin
Answer E Explanation [[AnswerEExp::These neurotransmitter changes are seen in anxiety]]
Right Answer RightAnswer::D
Explanation [[Explanation::This animal model is trying to develop Huntington disease in the monkeys, which is caused by a trinucleotide repeat (CAG), which caused damage to the caudate nucleus. Biochemically; human brains affected with this autosomal dominant disease have decreased GABA and Ach, increased DA.


Educational Objective: Huntington is an autosomal dominant disease caused by a CAG trinucleotide expansion, which causes structural damage to the caudate. The neurotransmitter changes seen are Decreased GABA and Ach, increased DA

References: First Aid 2013 page 461
Educational Objective:
References: ]]

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