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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 42 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 irritability. The patient is on an antipsychotic for recent onset of hallucinations, 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 cognitive slowing, slightly impaired memory, oculomotor dysfunction, generalized choreiform movements, and motor impersistence. CT 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) Tetrabenazine can be helpful in symptomatic treatment of the chorea in this disease
 
        B) Depression in this disorder typically does not respond to standard antidepressant medications
 
        C) Pathophysiology of this disease involves a polyproline strand
 
        D) Typical life expectancy after clinical diagnosis with this disease is about 10 years
 
        E) Tetrabenazine can delay the progression of this disease
 

 


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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) Tetrabenazine can be helpful in symptomatic treatment of the chorea in this disease

This answer is correct.


This patient has Huntington disease (HD). There is currently no disease-altering treatment, but the choreiform movements are sometimes alleviated with neuroleptics (e.g., haloperidol) or tetrabenazine.   (See References)

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B) Depression in this disorder typically does not respond to standard antidepressant medications

This answer is incorrect.


This patient has Huntington disease (HD). Depression in HD often responds to standard antidepressant therapy.   (See References)

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C) Pathophysiology of this disease involves a polyproline 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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D) Typical life expectancy after clinical diagnosis with this disease is about 10 years

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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E) Tetrabenazine can delay the progression of this disease

This answer is incorrect.


This patient has Huntington disease (HD). There is currently no disease-altering treatment, but the choreiform movements are sometimes alleviated with neuroleptics (e.g., haloperidol) or tetrabenazine.   (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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