Histopathological features of familial amyloidotic polyneuropathy: a report of a case with postmortem examination

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LIU Jing-yao(Department of Neurology, First Hospital of part two of Jilin University, Changchun 130031, China)
GUO Ying-jie()
XING Ying-qi()
JIANG Xin-mei()
Journal Title:
Chinese Journal of Neuromedicine
Volume 11, Issue 09, 2012
Key Word:
Peripheral Neuropathy;Amyloidosis;Familial;Transthyretin;Autopsy

Abstract: Objective To analyze and conclude the clinlcal and histopathological features of a proband with familial amyloidotic polyneuropathy (FAP) by postmortem examination and gene sequencing of DNA from peripheral blood to provide reference in further understanding the disease.Methods Morphological study was constructed by hematoxylin and eosin (HE) staining, congo red staining and birefringence with thioflavin under microscope, and by immunolabeling with polyclonal rabbit antibodies to transthyretin under polarized microscope. Results Genetic findings of transthyretin (TTR) gene revealed a T to C transition in codon 30 causing the mutation TTR Ala30; this proband belonged TTR Val30Met FAP type.Autopsy showed heavy amyloid deposition in the peripheral nerves,liver,testes,thyroid,pancreas and muscles.The spleen showed only slight deposition,and none was observed in the central nervous system. Conclusion Distinction is noted on pathological changes of Chinese FAP patient with TTR Val30Ala and other FAP patient with typical TTR Val30Met.

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