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Neurodegen 01

Topic: Anatomy

Created on Sunday, February 8 2009 by gliageek

Last modified on Sunday, February 8 2009.


Courtesy of Dr. Mark Cohen

The pathologic abnormalities shown here are associated with which of the following mutations?

 
        A) Prion P102L
 
        B) Beta-amyloid precursor protein
 
        C) Superoxide dismutase 1
 
        D) Presenilin 1
 
        E) LRRK2
 

 


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This question was created on February 08, 2009 by gliageek.
This question was last modified on February 08, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Prion P102L

This answer is incorrect.


This is the most common mutation in patients with Gerstmann-Straussler-Scheinker disease. GSS shows abundant multicentric amyloid plaques in the cerebral and cerebellar cortices.  (See References)

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B) beta-amyloid precursor protein

This answer is incorrect.


Mutations in the B-APP gene result in Lewy body variant of AD  (See References)

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C) superoxide dismutase 1

This answer is incorrect.


SOD1 mutations underlie a small proportion of familial ALS  (See References)

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D) Presenilin 1

This answer is correct.


Cotton-wool plaques are typically seen in early-onset familial AD secondary to mutations in presenilin-1  (See References)

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E) LRRK2

This answer is incorrect.


LRRK2 mutations are the most common cause familial late onset Parkinson disease  (See References)

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References:

1. Graham, D.I., and Lantos, P.L. (2002). Greenfield's Neuropathology, 7th ed. Arnold Press, New York. (ISBN:0340742313)Advertising:
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anatomy
Neurodegen 01
Question ID: 020809087
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/08/2009
Modified: 02/08/2009
Estimated Permutations: 120

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