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A patient with cognitive and movement complaints 01

Topic: Adult

Created on Tuesday, January 1 2008 by jdmiles

Last modified on Tuesday, January 1 2008.

A 42 year-old male presents to your office accompanied by a family member, who helps provide the history. The patient has had a 3 year history of worsening psychiatric and neurologic issues, including memory problems and odd movements and uncharacteristic aggressive behavior. The patient has no significant past medical history, and is on no medications at home. The patient confirms that other family members have had similar symptoms, and some have died at an early age. On exam, you note generalized choreiform movements, cognitive slowing, slightly impaired memory, motor impersistence, and oculomotor dysfunction. MRI of the brain is remarkable only for slight atrophy of the caudate bilaterally. Of the following statements, which is most accurate about this patient's most likely diagnosis?

 
        A) This disorder is associated with a defect on chromosome 2
 
        B) This disorder has an autosomal recessive inheritance pattern.
 
        C) This disorder is associated with a defect on chromosome 14
 
        D) This disorder is associated with a defect on chromosome 4
 
        E) This is not a genetic disorder.
 

 


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This question was created on January 01, 2008 by jdmiles.
This question was last modified on January 01, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) This disorder is associated with a defect on chromosome 2

This answer is incorrect.


This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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B) This disorder has an autosomal recessive inheritance pattern.

This answer is incorrect.


This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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C) This disorder is associated with a defect on chromosome 14

This answer is incorrect.


This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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D) This disorder is associated with a defect on chromosome 4

This answer is correct.


This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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E) This is not a genetic disorder.

This answer is incorrect.


This patient's history, family history, exam findings, and axillary studies are strongly suggestive of Huntington disease (HD). HD is an autosomal dominant disorder, involving an expanding CAG trinucleotide repeat on chromosome 4.   (See References)

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References:

1. Walker, F.O. (2007). "Huntington's Disease." Semin Neurol, 27(2) 143-50. (PMID:17390259)
2. Walker, F.O. (2007). "Huntington's disease." Lancet, 369(9557) 218-28. (PMID:17240289)
3. Zaidat, O.O., and Lerner, A.J. (2002). The Little Black Book of Neurology, 4th Edition. Mosby, St. Louis (ISBN:0323014151) Advertising:
4. Bertelson, J.A., and Price, B.H. (2004). Depression and psychosis in neurological practice. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 103-116 (ISBN:0750674695). Advertising:
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adult
A patient with cognitive and movement complaints 01
Question ID: 010108110
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 01/01/2008
Modified: 01/01/2008
Estimated Permutations: 45360

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