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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 37 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 neurologic and psychiatric issues, including odd movements and memory problems 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 slightly impaired memory, cognitive slowing, generalized choreiform movements, 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 involves an expanding CGG trinucleotide repeat
 
        B) This disorder is associated with a defect on chromosome 3
 
        C) This is not a genetic disorder.
 
        D) This disorder has an autosomal dominant inheritance pattern.
 
        E) This disorder has an X-linked dominant inheritance pattern.
 

 


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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 involves an expanding CGG trinucleotide repeat

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 is associated with a defect on chromosome 3

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 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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D) This disorder has an autosomal dominant inheritance pattern.

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 disorder has an X-linked dominant 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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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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