NR AXLC
AU Dong,X.P.; Shi,X.H.; Han,J.; Zhang,J.; Shi,Q.; Zhao,W.Q.; Chen,J.M.; Xie,Z.Q.; Shen,X.J.; Xia,S.L.; Lei,Y.J.; Shi,S.; Zhou,W.; Zhang,B.Y.; Gao,C.; Shan,B.; Guo,Y.J.; Wang,D.X.; Xu,B.L.
TI Fatal Familial Insomnia: Two Cases in One Chinese Family and its Epidemiological and Genetic Studies across Seven Generations
QU International Conference - Prion 2007 (26.-28.9.2007) Edinburgh International Conference Centre, Edinburgh, Scotland, UK - Book of Abstracts: Epidemiology, Risk Assessment and Transmission P04.55
IA http://www.prion2007.com/pdf/Prion Book of Abstracts.pdf
PT Konferenz-Poster
AB
Background: Fatal familial insomnia (FFI), as a rare human prion disease, was firstly described in 1986 as an autosomal dominant heredopathy, clinically characterized by a disordered sleep/wake cycle (progressive untreatable insomnia), dysautonomia, and motor signs and pathologically characterized by predominant thalamic degeneration.
Objective To assess two FFI cases in one Chinese family and to study the epidemiological and genetic evidences across seven generations Methods: The clinical data of two FFI patients were comparatively analyzed. The information on the pedigree was collected retrospectively by interviews with the family members. The blood samples of two clinical patients, Case 1 and 2, and 32 health family members across four generations were taken with informed consent and PRNP genotypes were mapped.
Results: Case 1 (proband), 48-year-old man and Case 2, a 26-year-old woman, who was the niece of Case 1, showed the similar clinical manifestations, in which progressive insomnia and sympathetic activation were the initial symptoms and persisted in the whole clinical courses. Total 135 members across seven generations of this family have been retrospectively or on-field investigated. Total eleven family members, including two FFI cases, were identified to be dead of neurological problems, six in the proband's father generation (III), four in proband's generation (IV) and 1 in proband's son generation (V). PRNP genotype of 32 family members revealed eleven carrying D178N allele, including these two FFI patients. Although spongiform degeneration and neuronal loss were detectable in thalamus of the proband postmortem, PK-resistant PrP signals have not been found in whole brain by routine PrP-specific Western blot and immnuohistochemistry (IHC).
Conclusion: Two definitely diagnosed FFI cases in one Chinese family, with epidemiological data of seven consecutive generations and the PRNP data of 32 family members.
AD X.-P. Dong, Y.-J. Lei, S. Shi, W. Zhou, B.-Y. Zhang, C. Gao, B. Shan, National Institute for Viral Disease Cotrol and Prevention, China; X.-H. Shi, Henan Province People's Hospital, China; J. Han, Q. Shi, J.-M. Chen, China CDC, State Key Lab for Infect Dis Prevent & Control, China; J. Zhang, Z.-Q. Xie, X.-J. Shen, S.-L. Xia, B.-L. Xu, Henan Provincial CDC, China; W.-Q. Zhao, Y.-J. Guo, D.-X. Wang, Beijing Friendship Hospital, China
SP englisch
PO Schottland