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Question
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Which of these proteins is not associated with familial amyloid polyneuropathy?
Explanation
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-2 macroglobulin associated amyloidosis is seen with long term hemodialysis. It leads to carpal tunnel syndrome and arthropathy. Transthyretin amyloidosis is the most common familial amyloidosis and is seen in Portuguese, Japanese and Swedish populations. It is autosomal dominant and presents with focal, sensory-motor or autonomic neuropathy. Diflunisal and tafamidis may prevent progression of amyloid and liver transplantation is beneficial. Apolipoprotein A1 amyloidosis is less common and causes neuropathy with renal failure. Gelsolin amyloidosis is autosomal dominant condition seen in finnish populations. It presents with corneal lattice dystrophy, cutis laxa and cranial nerve involvement, especially bilateral facial weakness.
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Reference
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Shin S C et al. Amyloid Neuropathies. Mt Sinai J Med. 201279(6)733-748.
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Option 1
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Is Correct (Option 1):
B-2 macroglobulin
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Option 2
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Is Correct (Option 2):
Gelsolin
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Option 3
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Is Correct (Option 3):
Apolipoprotein A1
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Option 4
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Is Correct (Option 4):
Transthyretin
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