Trinucleotide Repeat Diseases 01

Topic: Pediatric

Created on Sunday, February 25 2007 by jdmiles

Last modified on Sunday, February 25 2007.

 
        A) Krabbe's leukodystrophy
 
        B) Dentatorubral-pallidoluysian atrophy (DRPLA)
 
        C) Ataxia telangiectasia
 
        D) Canavan leukodystrophy
 
        E) Acute intermittent porphyria
 

 

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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

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A) Krabbe's leukodystrophy

This answer is incorrect.

Krabbe's leukodystrophy is not associated with a trinucleotide repeat expansion.  (See References)

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B) dentatorubral-pallidoluysian atrophy (DRPLA)

This answer is correct.

Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with a CAG repeat expansion  (See References)

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C) Ataxia telangiectasia

This answer is incorrect.

Ataxia telangiectasia is not associated with a trinucleotide repeat expansion.  (See References)

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D) Canavan leukodystrophy

This answer is incorrect.

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

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E) Acute intermittent porphyria

This answer is incorrect.

Acute intermittent porphyria 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