Ceroid Lipofuscinoses 02

Topic: Pediatric

Created on Thursday, October 18 2007 by jdmiles

Last modified on Thursday, October 18 2007.

 
        A) Trinucleotide repeat
 
        B) Autosomal recessive
 
        C) Chromosomal trisomy
 
        D) This is not a genetic disease
 
        E) X-linked dominant
 

 

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This question was created on October 18, 2007 by jdmiles.
This question was last modified on October 18, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) trinucleotide repeat

This answer is incorrect.

The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

All of these disorders are inherited, with an autosomal recessive pattern.

  (See References)

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B) autosomal recessive

This answer is correct.

The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

All of these disorders are inherited, with an autosomal recessive pattern.

  (See References)

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---

C) chromosomal trisomy

This answer is incorrect.

The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

All of these disorders are inherited, with an autosomal recessive pattern.

  (See References)

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---

D) this is not a genetic disease

This answer is incorrect.

The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

All of these disorders are inherited, with an autosomal recessive pattern.

  (See References)

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---

E) X-linked dominant

This answer is incorrect.

The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

All of these disorders are inherited, with an autosomal recessive pattern.

  (See References)

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References:

1. Mitchison, H.M., and Mole, S.E. (2001). "Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)." Curr Opin Neurol, 14(6) 795-803. (PMID:11723391)
2. Wisniewski, K.E., Zhong, N., and Philippart, M. (2001). "Pheno/genotypic correlations of neuronal ceroid lipofuscinoses." Neurology, 57(4) 576-81. (PMID:11548735)

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pediatric
Ceroid Lipofuscinoses 02
Question ID: 101807113
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/18/2007
Modified: 10/18/2007
Estimated Permutations: 1800