Hereditary Neuropathy with Liability to Pressure Palsy 01

Topic: Adult

Created on Thursday, April 12 2007 by jdmiles

Last modified on Thursday, April 12 2007.

 
        A) HNPP is associated with chromosomal location 12q24.
 
        B) HNPP shows a demyelinating pattern on electrodiagnostic studies.
 
        C) HNPP is associated with Sphingomyelinase.
 
        D) HNPP is associated with chromosomal location 1p35-36.
 
        E) HNPP is associated with chromosomal location 4q12.
 

 

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This question was created on April 12, 2007 by jdmiles.
This question was last modified on April 12, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) HNPP is associated with chromosomal location 12q24.

This answer is incorrect.

HNPP is associated with chromosomal location 17p11.2-12. Distal hereditary motor neuropathy type II is associated with chromosomal location 12q24.  (See References)

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B) HNPP shows a demyelinating pattern on electrodiagnostic studies.

This answer is correct.

HNPP shows a demyelinating pattern on electrodiagnostic studies.  (See References)

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C) HNPP is associated with Sphingomyelinase.

This answer is incorrect.

HNPP is associated with peripheral myelin protein 22 (PMP-22). Sphingomyelinase is an enzyme which is deficient in Niemann-Pick disease type A.  (See References)

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D) HNPP is associated with chromosomal location 1p35-36.

This answer is incorrect.

HNPP is associated with chromosomal location 17p11.2-12. Charcot-Marie-Tooth (CMT-2A) is associated with chromosomal location 1p35-36.  (See References)

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E) HNPP is associated with chromosomal location 4q12.

This answer is incorrect.

HNPP is associated with chromosomal location 17p11.2-12. Muscular dystrophy is associated with chromosomal location 4q12.  (See References)

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References:

1. Bird, T.D., and Tapscott, S.J. (2004). Clinical neurogenetics. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 781-808.
2. Horowitz, S.H., Spollen, L.E., and Yu, W. (2004). Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training. Journal of Neurology Neurosurgery and Psychiatry, 75, Pp. 1629-1631.

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adult
Hereditary Neuropathy with Liability to Pressure Palsy 01
Question ID: 041207086
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 04/12/2007
Modified: 04/12/2007
Estimated Permutations: 60480