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

( views:253, downloads:0 )
Author:
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
Issue:
Volume 11, Issue 09, 2012
DOI:
10.3760/cma.j.issn.1671-8925.2012.09.019
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.

  • [1]Plante-Bordeneuve V,Said G.Familial amyloid polyneuropathy[J].Lancet Neurol,2011,10(12):1086-1097.
  • [2]Benson MD,Kincaid JC.The molecular biology and clinical features of amyloid neuropathy[J].Muscle Nerve,2007,36(4):411-423.
  • [3]Nagasaka T,Togashi S,Watanabe H,et al.Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54[J].J Neurol Sci,2009,15,276(1-2):88-94.
  • [4]Sakashita N,Ando Y,Obayashi K,et al.Familial amyloidotic polyneuropathy (ATTR Ser50Ile):the first autopsy case report[J].Virchows Arch,2000,436(4):345-350.
  • [5]Takahashi K,Sakashita N,Ando Y,et al.Late onset type Ⅰ familial amyloidotic polyneuropathy:presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type[J].Pathol Int,1997,47(6):353-359.
  • [6]Takahashi K,Yi S,Kimura Y,et al.Familial amyloidotic polyneuropathy type 1 in Kumamoto,Japan:a clinicopathologic,histochemical,immunohistochemical,and ultrastructural study[J].Hum Pathol,1991,22(6):519-527.
  • [7]Olofsson BO,Grankvist K,Olsson T,et al.Assessment of hypothalamic-pituitary function in patients with familial amyloidotic polyneuropathy[J].J Intern Med,1991,229(1):55-59.
  • [8]Olofsson BO,Grankvist K,Boman K,et al.Assessment of thyroid and adrenal function in patients with familial amyloidotic polyneuropathy[J].J Intern Med,[989,225(5):337-341.
  • [9]Lee KW,Lee DH,Son H,et al.Clusterin regulates transthyretin amyloidosis[J].Biochem Biophys Res Commun,2009,388(2):256-260.
  • [10]Pepys MB, Herbert J, Hutchinson WL, et al. Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis[J].Nature,2002,417 (6886):254-259.
  • [11]Satoh S,Tokuda T,Ikeda S,et al.No association between apolipoprotein E epsilon4 allele and the age of onset in type Ⅰ familial amyloid polyneuropathy[J].Neurosci Lett,1996,204(3):209-211.
  • [12]Tennent GA,Lovat LB,Pepys MB.Serum amyloid P component prevents proteolysis of the amyloid fibrils of Alzheimer disease and systemic amyloidosis[J]. Proc Natl Acad Sci, 1995, 92 (10):4299-4303.
  • [13]Dardiotis E,Koutsou P,Zamba-Papanicolaou E,et al.Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met[J].J Neurol Sci,2009,284(1-2):158-162.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn