Case Studies
Case 2: A lady with a one-year change in personality
A 46-year-old lady presents with a one year history of a change in personality. She has become more irritable and a bit more forgetful and flies off the handle with fairly minimal provocation. Her husband reports that she is very fidgety in her sleep and indeed on examining her you notice that she has got widespread involuntary dance-like movements of the face, trunk and limbs. She has no significant previous medical history but her mother and aunt were both committed in their 50’s and died ten years later.
Your Answer:
Correct answer: Chorea.
Your Answer:
Correct answer: Huntington’s disease.
Your Answer:
Correct answer: A CAG expansion exon 1 of the huntingtin gene on chromosome 4.
Your Answer:
Correct answer: The initial pathology involves the striatum. However there is now evidence for early widespread pathology throughout the brain from disease onset.