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J Korean Assoc EMG Electrodiagn Med 2003;5(2):97-101.
Published online May 10, 2003.
Familial Amyloid Polyneuropathy Type I (FAP Type I)
Abstract
Familial amyloid polyneuropathy(FAP) is a systemic amyloidosis with an autosomal dominant pattern of inheritance and characterized by progressive polyneuropathy with autonomic failure and also by multiple organ involvement such as heart and kidney. We report a 31-year-old female patient with progressive weakness and sensory changes of extremities, frequent nausea and vomiting, alternating diarrhea and constipation. Histologic examination of sural nerve demonstrated amyloid deposition and the characteristic apple-green birefingence of amyloid was identified under a polarizing microsope. Genetic study about transthyretin(TTR) gene showed a single base transversion at the middle nucleotide of codone 54 (GAG to GGG) indicating replacement of glutamate by glycine. This is an another variant TTR associated with aggressive FAP.
Key Words: Amyloid neuropathy, Familial amyloidosis, Prealbumin
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A Case of Familial Amyloid Polyneuropathy2003 May;5(2)



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