Trinucleotide Repeat Diseases 01

Topic: Pediatric

Created on Sunday, February 25 2007 by jdmiles

Last modified on Sunday, February 25 2007.

 
        A) Spinocerebellar ataxia type 1 (SCA1)
 
        B) Niemann-Pick type A
 
        C) Tuberous sclerosis (TSC1)
 
        D) Juvenile myoclonic epilepsy
 
        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

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A) spinocerebellar ataxia type 1 (SCA1)

This answer is correct.

Spinocerebellar ataxia type 1 (SCA1) is associated with a CAG repeat expansion  (See References)

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B) 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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C) Tuberous sclerosis (TSC1)

This answer is incorrect.

Tuberous sclerosis (TSC1) is not associated with a trinucleotide repeat expansion.  (See References)

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D) Juvenile myoclonic epilepsy

This answer is incorrect.

Juvenile myoclonic epilepsy 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