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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 43 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 memory problems and odd movements and uncharacteristic aggressive behavior. 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 slightly impaired memory, generalized choreiform movements, oculomotor dysfunction, cognitive slowing, and motor impersistence. 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) Decreased volume of the striatum is pathognomonic for this disease

B) This disorder has a higher prevalence among Asians than among blacks or caucasians

C) Many patients with this disorder commit suicide

D) Pathophysiology of this disease involves a polymethionine strand

E) The choreiform movements will worsen throughout the course 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) Decreased volume of the striatum is pathognomonic for this disease

This answer is incorrect.

This patient has Huntington disease (HD). While patients with HD often have decreased striatum volume which is visible on imaging, this finding is neither very specific nor very sensitive for HD. (See References)


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B) This disorder has a higher prevalence among Asians than among blacks or caucasians

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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C) Many patients with this disorder commit suicide

This answer is correct.

This patient has Huntington disease (HD). The suicide rate in HD is estimated to be greater than 10%, and as many as 25% of patients with HD attempt suicide. (See References)


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D) Pathophysiology of this disease involves a polymethionine 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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E) The choreiform movements will worsen throughout the course of this disease

This answer is incorrect.

This patient has Huntington disease (HD). Choreiform movements are a hallmark of this disease, but they often subside in the later stage of the disease, giving way to rigidity and dystonia. (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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A patient with cognitive and movement complaints 02

Topic: Adult

ANSWERS AND EXPLANATIONS

A) Decreased volume of the striatum is pathognomonic for this disease This answer is incorrect.

B) This disorder has a higher prevalence among Asians than among blacks or caucasians This answer is incorrect.

C) Many patients with this disorder commit suicide This answer is correct.

D) Pathophysiology of this disease involves a polymethionine strand This answer is incorrect.