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Medicine

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Neurology

Question
7 out of 23
 

Biochemical abnormality in the brain in Alzheimer disease? (NEET 2013)



A Increase Acetylcholine

B Decrease Acetylcholine

C Decrease GABA

D Increase GABA

Ans. B

Decrease acetyl choline

Pathology: At autopsy, the most severe pathology is usually found in the hippocampus, temporal cortex, and nucleus basalis of Meynert (lateral septum).

Microscopically – neuritic senile plaques and cytoplasmic neurofibrillary tangles (AIIMS May 09). The neuritic plaque contain Aβ amyloid, proteoglycans, Apo E, α1 antichymotrypsin.

Macroscopically – Diffuse atrophy of cerebral cortex with secondary enlargement of ventricular system.

Biochemically – Decrease in cerebral cortical levels of Acetylcholine, choline acetyltransferase and nicotinic cholinergic receptors.

Reduction in norepinephrine levels in brainstem nuclei.

Table - Genetics of Alzheimer Disease

Chromosome

Gene

Mutations/Alleles

Consequences

21

Amyloid precursor protein (APP)

• Single missense mutations Double missense mutation Trisomy 21 (gene dosage effect)

• Early-onset FAD Increased Aβproduction

14

Presenilin-1 (PS1)

• Missense mutations Splice site mutations

• Early-onset FAD Increased Aβproduction

1

Presenilin-2 (PS2)

• Missense mutations

• Early-onset FAD Increased Aβproduction

19

Apolipoprotein E (ApoE)

• Allele ε4

• Increased risk of development of AD Decreased age at onset of AD

Neurology Flashcard List

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