Clinical, histopathological and genetic studies in a family with fatal familial insomnia

Infection, Genetics and Evolution

Volumn 10, Issue 2, 2010, Pages 292-297

  Shi, Xiao Hong ^a   Han, Jun ^b   Zhang, Jin ^c   Shi, Qi ^b   Chen, Jian Ming ^b   Xia, Sheng Li ^c   Xie, Zhi Qiang ^c   Shen, Xiao Jing ^c   Shan, Bing ^b   Lei, Yan Jun ^b   Shi, Song ^b   Zhou, Wei ^b   Zhang, Bao Yun ^b   Gao, Chen ^b   Liu, Ying Hui ^b   Song, Juan ^b   Guo, Yan Jun ^d   Wang, De Xin ^d   Xu, Bian Li ^c   Dong, Xiao Ping ^b  

^a HENAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^b CHINESE CENTER FOR DISEASE CONTROL AND PREVENTION   (China)

^c HENAN PROVINCIAL CENTER FOR DISEASE CONTROL AND PREVENTION   (China)

^d CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Chinese; Clinical; Fatal familial insomnia; Genetics; PrP

Indexed keywords

ASPARAGINE; ASPARTIC ACID; GENE PRODUCT; PRION PROTEIN; PROTEIN PRNP; PROTEINASE K; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN SPONGIOSIS; CHINESE; CLINICAL FEATURE; CODON; FAMILY STUDY; FATAL FAMILIAL INSOMNIA; FEMALE; GLIOSIS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SYMPATHETIC TONE; THALAMUS; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; BRAIN; ENDOPEPTIDASE K; FEMALE; HISTOCYTOCHEMISTRY; HUMANS; INSOMNIA, FATAL FAMILIAL; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PRIONS;

EID: 76849099629     PISSN: 15671348     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.meegid.2010.01.007     Document Type: Article

References (20)

1. Aguzzi A., and Glatzel M. Prion infections, blood and transfusions. Nat. Clin. Pract. Neurol. 2 (2006) 321-329
2. Almer G., Hainfellner J.A., Brücke T., Jellinger K., Kleinert R., Bayer G., Windl O., Kretzschmar H.A., Hill A., Sidle K., Collinge J., and Budka H. Fatal familial insomnia: a new Austrian family. Brain 122 Pt 1 (1999) 5-16
3. Ayuso B.T., Urriza M.J., Caballero M.C., Iriarte F.J., Munoz R., and García-Bragado F. Fatal familiar insomnia: clinical, neurophysiological and histopathological study of two cases. Neurologia 21 (2006) 414-420
4. Brown P., Brandel J.P., Preece M., and Sato T. Iatrogenic Creutzfeldt-Jakob disease: the waning of an era. Neurology 67 (2006) 389-393
5. Gistau V.S., Pintor L., Matrai S., and Saiz A. Fatal familial insomnia. Psychosomatics 47 (2006) 527-528
6. Goldfarb L.G., Petersen R.B., Tabaton M., Brown P., LeBlanc A.C., Montagna P., Cortelli P., Julien J., Vital C., Pendelbury W.W., et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258 (1992) 806-808
7. Liberski P.P., Streichenberger N., Giraud P., Soutrenon M., Meyronnet D., Sikorska B., and Kopp N. Ultrastructural pathology of prion diseases revisited: brain biopsy studies. Neuropathol. Appl. Neurobiol. 31 (2005) 88-96
8. Lugaresi E., Medori R., Montagna P., Baruzzi A., Cortelli P., Lugaresi A., Tinuper P., Zucconi M., and Gambetti P. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N. Engl. J. Med. 315 (1986) 997-1003
9. Manetto V., Medori R., Cortelli P., Montagna P., Tinuper P., Baruzzi A., Rancurel G., Hauw J.J., Vanderhaeghen J.J., Mailleux P., et al. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology 42 (1992) 312-319
10. Mastrianni J.A., Nixon R., Layzer R., Telling G.C., Han D., DeArmond S.J., and Prusiner S.B. Prion protein conformation in a patient with sporadic fatal insomnia. N. Engl. J. Med. 340 (1999) 1630-1638
11. Medori R., Tritschler H.J., LeBlanc A., Villare F., Manetto V., Chen H.Y., Xue R., Leal S., Montagna P., Cortelli P., et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N. Engl. J. Med. 326 (1992) 444-449
12. Nagayama M., Shinohara Y., Furukawa H., and Kitamoto T. Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan. Neurology 47 (1996) 1313-1316
13. Parchi P., Castellani R., Cortelli P., Montagna P., Chen S.G., Petersen R.B., Manetto V., Vnencak-Jones C.L., McLean M.J., Sheller J.R., et al. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann. Neurol. 38 (1995) 21-29
14. Parchi P., Petersen R.B., Chen S.G., Autilio-Gambetti L., Capellari S., Monari L., Cortelli P., Montagna P., Lugaresi E., and Gambetti P. Molecular pathology of fatal familial insomnia. Brain Pathol. 8 (1998) 539-548
15. Pasquale M., Pierluigi G., Pietro C., and Elio L. Familial and sporadic fatal insomnia. Lancet Neurol. 2 (2003) 167-176
16. Spacey S.D., Pastore M., McGillivray B., Fleming J., Gambetti P., and Feldman H. Fatal familial insomnia: the first account in a family of Chinese descent. Arch. Neurol. 61 (2004) 122-125
17. Wadsworth J.D., Joiner S., Hill A.F., Campbell T.A., Desbruslais M., Luthert P.J., and Collinge J. Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assay. Lancet 358 (2001) 171-180
18. Wang X.F., Guo Y.J., Zhang B.Y., Zhao W.Q., Gao J.M., Wan Y.Z., Li F., Han J., Wang D.X., and Dong X.P. Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP. J. Neurol. Neurosurg. Psychiatry 78 (2007) 201-203
19. Ye J., Han J., Shi Q., Zhang B.Y., Wang G.R., Tian C., Gao C., Chen J.M., Li C.J., Liu Z., Li X.Z., Zhang L.Z., and Dong X.P. Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series. J. Med. Case Reports 2 (2008) 331
20. Yu S., Zhang Y., Li S., Sy M.S., Sun S., Tien P., and Xiao G. Early onset fatal familial insomnia with rapid progression in a Chinese family line. J. Neurol. 254 (2007) 1300-1301