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A patient with cognitive and movement complaints 02

Topic: Adult

Created on Tuesday, September 23 2008 by jdmiles

Last modified on Tuesday, September 23 2008.

A 45 year-old male presents to your office accompanied by a family member, who helps provide the history. The patient has had a 2 year history of worsening psychiatric and neurologic issues, including odd movements and memory problems and uncharacteristic depression. The patient is on a stool softener for constipation, and has no other past medical history. 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, motor impersistence, cognitive slowing, generalized choreiform movements, and oculomotor dysfunction. MRI of the brain is remarkable only for slight atrophy of the caudate bilaterally. The patient's diagnosis was confirmed by genetic testing, which showed a CAG trinucleotide repeat on chromosome 4.
Of the following statements, which is most accurate about this patient's disease?

 
        A) Clinical onset of symptoms usually occurs between 35 and 45 years of age
 
        B) This disease does not typically shorten a person's life expectancy
 
        C) The earliest cognitive change in this disorder is usually memory loss
 
        D) This disorder has a higher prevalence among blacks than among caucasians or asians
 
        E) Pathophysiology of this disease involves a polytyrosine strand
 

 


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This question was created on September 23, 2008 by jdmiles.
This question was last modified on September 23, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Clinical onset of symptoms usually occurs between 35 and 45 years of age

This answer is correct.


This patient has Huntington disease (HD). Symptoms of HD usually begin between 35 and 45 years of age, but cases with onset as early as 2 years and as late as 92 years have been reported.   (See References)

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B) This disease does not typically shorten a person's life expectancy

This answer is incorrect.


This patient has Huntington disease (HD). HD is progressive and terminal. Once the clincial diagnosis is made, the typical life expectancy for a person with HD is about 20 years.   (See References)

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C) The earliest cognitive change in this disorder is usually memory loss

This answer is incorrect.


This patient has Huntington disease (HD). Cognitive and psychiatric changes are a uniform part of the clinical picture of HD. The most frequent initial cognitive symptom involves some impairment of executive function, and is often first noticed at the patient's workplace.   (See References)

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D) This disorder has a higher prevalence among blacks than among caucasians or asians

This answer is incorrect.


This patient has Huntington disease (HD). Prevalence of HD among caucasians is approximately 10 cases per 100,000. Prevalence is much less in black and Asian populations.   (See References)

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E) Pathophysiology of this disease involves a polytyrosine strand

This answer is incorrect.


This patient has Huntington disease (HD). Genetically, HD appears to be caused by a CAG trinucleotide expanding repeat on chromosome 4. This reults in a polyglutamine strand incorporated into the translated huntingtin protein.   (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:
5. Shannon, K.M. (2004). Movement disorders. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 2125-2168 (ISBN:0750674695). Advertising:
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adult
A patient with cognitive and movement complaints 02
Question ID: 010108123
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/23/2008
Modified: 09/23/2008
Estimated Permutations: 49140000

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