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Trinucleotide Repeat Diseases 01

Topic: Pediatric

Created on Sunday, February 25 2007 by jdmiles

Last modified on Sunday, February 25 2007.

Which of the following disorders is associated with a trinucleotide repeat expansion?

 
        A) Spinocerebellar ataxia type 2 (SCA2)
 
        B) Von Hippel-Lindau disease
 
        C) Niemann-Pick type B
 
        D) Niemann-Pick type A
 
        E) Metachromatic leukodystrophy
 

 


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This question was created on February 25, 2007 by jdmiles.
This question was last modified on February 25, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) spinocerebellar ataxia type 2 (SCA2)

This answer is correct.


Spinocerebellar ataxia type 2 (SCA2) is associated with a CAG repeat expansion  (See References)

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B) von Hippel-Lindau disease

This answer is incorrect.


Von Hippel-Lindau disease is not associated with a trinucleotide repeat expansion.  (See References)

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C) Niemann-Pick type B

This answer is incorrect.


Niemann-Pick type B is not associated with a trinucleotide repeat expansion.  (See References)

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D) Niemann-Pick type A

This answer is incorrect.


Niemann-Pick type A is not associated with a trinucleotide repeat expansion.  (See References)

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E) Metachromatic leukodystrophy

This answer is incorrect.


Metachromatic leukodystrophy is not associated with a trinucleotide repeat expansion.  (See References)

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References:

1. Bird, T.D., and Tapscott, S.J. K.M. (2004). Clinical Neurogenetics. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 781-808.
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pediatric
Trinucleotide Repeat Diseases 01
Question ID: 022507097
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/25/2007
Modified: 02/25/2007
Estimated Permutations: 19734000

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