[Studies on heredity rule of the first genealogy regarding fatal familial insomnia in Henan province].
OBJECTIVE
To investigate the epidemiological, genealogic characteristic, familial history of the families with fatal familial insomnia, its clinical and pathological features as well as the heredity rule of related genes.


METHODS
135 familial members of 7 eras were studied. Vein blood samples from patients as well as from some familial members were collected. PRNP gene was studied with PCR, its serial was determined and then authenticated with Nsp I . Brain tissue was obtained for neuropathological test and PrP(Sc) test with Western blot method.


RESULTS
Clinical symptoms of the 2 diagnosed cases were typical. 11 familial members died of similar neural disease. 32 samples of their familial members, codon at D178N of PRNP of 11 members was mutated, with mutation rate as 34.38% while D129N showed as methionine. Brain tissue of both probands denaturalized into spongiform and the nerve fiber was absent but PrP(Sc) protein was identified.


CONCLUSIONS
Genealogy was described in the family with fatal familial insomnia since the patients had typical clinical symptoms and pathological characteristics. It seemed necessary to confirm cases of fatal familial insomnia and their genealogy with epidemiological data and to investigate its gene characteristics as well as with neuropathological and Western blot tests.
Zhang
Jin
J
Henan Provincial Center for Disease Control and Prevention, Zhengzhou 450016, China.
Han
Jun
J
Shi
Xiao-Hong
XH
Guo
Wan-Shen
WS
Xia
Sheng-Li
SL
Shi
Qi
Q
Chen
Jian-Ming
JM
Zhao
Wei-Qin
WQ
Xie
Zhi-Qiang
ZQ
Shen
Xiao-Jing
XJ
Li
Meng-Lei
ML
Lei
Yan-Jun
YJ
Shi
Song
S
Zhou
Wei
W
Zhang
Bao-Yun
BY
Gao
Chen
C
Shan
Bing
B
Guo
Yan-Jun
YJ
Wang
De-Xin
DX
Xu
Bian-Li
BL
Dong
Xiao-Ping
XP
D000328:Adult; D000368:Aged; D002681:China / Q000453:epidemiology; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D040582:Inheritance Patterns; D034062:Insomnia, Fatal Familial / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D018620:PrPSc Proteins / Q000235:genetics
D018620:PrPSc Proteins