Fatal familial insomnia: Phenotypic difference determined by polymorphism at codon 129;Insomnie fatale familiale: Variation phenotypique determinee par le polymorphisme du codon 129

Revue Neurologique

Volumn 153, Issue 4, 1997, Pages 239-243

  Colombier, C ^a   Geraud G ^a   Delisle, M B ^a   Laplanche, J L ^b   Pavy Le Traon, A ^a   Alize P ^a   Delpla, P A ^a  

^a CHU RANGUEIL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; PRION PROTEIN; VALINE;

ADULT; ARTICLE; CASE REPORT; CODON; DYSAUTONOMIA; FAMILIAL DISEASE; GENE MUTATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; INSOMNIA; PHENOTYPE; BRAIN; CREUTZFELDT JAKOB DISEASE; GENETICS; HETEROZYGOTE; MALE; MUTATION; PATHOLOGY; PRION; PRION DISEASE; TIME;

ADULT; BRAIN; CODON; CREUTZFELDT-JAKOB SYNDROME; HETEROZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; PRION DISEASES; PRIONS; TIME FACTORS;

EID: 0030855624     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. COLLINGE J., PALMER M.S., DRYDEN A.J. (1991). Genetic predisposition to iatrogenic Creutzfeldt-Jakob. Lancet, 337 : 1441-2.
2. COLLINGE J., PALMER M.S., SIDLE K.C., GOWLAND I., MEDORI R., IRONSIDE J., LANTOS P. (1995). Transmission of fatal familial insomnia to laboratory animals [letter]. Lancet, 346 : 569-70.
3. CORTELLI P., PARCHI P., CONTIN M. (1991). Cardiovascular dysautonomia in fatal familial insomnia. Clinical Autonomic Research, 1 : 15-21.
4. GAMBETTI P., PARCHI P., PETERSEN R.B., CHEN S.G., LUGARESI E. (1995). Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. Brain Pathol, 5 : 43-51.
5. GOLDFARB L.G., HALTIA M., BROWN P., NIETO A., KOVANEN J., MAC COMBIE W.R., TRAP S., GAJDUSEK D.C. (1991). New mutation in scrapie amyloid presursor gene (at codon 178) in Finish Creutzfeldt-Jakob kindred. Lancet, 337 : 425.
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., HALTIA M., WILLS P.R., HAW J.J., MAC KEEVER P.E., MONARI L., SCHRANK B., SWERGOLD G.D, AUTILIO-GAMBETTI L., GAJDUSEK D.C., LUGARESI E., GAMBETTI P. (1992). Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science, 258 : 806-8.
7. JULIEN J., VITAL C., DELEPLANQUE B., LAGUENY A., FERRER X. (1990). Atrophie thalamique subaiguë familiale. Troubles mnésiques et insomnie totale. Rev Neurol, 146 : 173-8.
8. LAPLANCHE J.L., DELASNERIE-LAUPRETRE N., BRANDEL J.P., CHATELAIN J., BEAUDRY P., AMPÉROVITCH A., LAUNAY J.M. (1994). Molecular genetics of prions diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies . Neurology, 44 : 2347-51.
9. LAURENT B., CATALA M., AMERI A., SEILHEAN D. (1995). Démence familiale et onirisme chez une femme de 63 ans. Rev Neurol, 151 : 420-428.
10. LUGARESI E., MONTAGNA P., BARUZZI A., CORTELU P., TINUPER P., ZUCCONI M., GAMBETTI P.L., MEDORI R. (1986a). Insomnie fatale familiale à évolution maligne : une nouvelle maladie thalamique. Rev Neurol, 142 : 791-2.
11. LUGARESI E., MEDORI R., MONTAGNA P., BARUZZI A., CORTELLI P., LUGARESI A., TINUPER P., ZUCCONI M., GAMBETTI P. (1986b). Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. New Engl J Med, 315 : 997-1003.
12. MANETTO V., MEDORI R., CORTELLI P., MONTAGNA P., TINUPER P., BARUZZI A., RANCUREL G., HAUW J.J., VANDERHAEGHEN J.J., MAILLEUX P., BUGAINI O., TAGUAVINI F., BOURRAS C., RIZZUTO N., LUGARESI E., GAMBETTI P. (1992). Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology, 42 : 312-9.
13. MEDORI R., TRITSCHLER H.J., LE BLANC A., VILLARE F., MANETTO V., CHEN H.Y., XUE R., LEAL S., MONTAGNA P., CORTELLI P., TINUPER P., AVONI P., MOCHI M., BARUZZI A., HAUW J.J., OTT J., LUGARESI E., AUTOLIO-GAMBETTI L., GAMBETTI P. (1992a). Fatal familial insomnia is a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med, 326 : 444-9.
14. MEDORI R., MONTAGNA P., TRITSCHLER H.J., LE BLANC A., CORTELLI P., LUGARESI E., GAMBETTI P. (1992b). Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology, 42 : 669-70.
15. MEDORI R., TRITSCHLER H.J. (1993). Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism. Am J Hum Genet, 53 : 822-7.
16. MONARI L., CHEN S.G., BROWN P., PARCHI P., PETRESEN R.B., MIKOL J., GRAY F., CORTELLI P., MONTAGNA P., GHETTI B., GOLDFARB L.G., GAJDUSEK D.C., LUGARESI E., GAMBETTI P., AUTILIO-GAMBETTI L. (1994). Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Proc Nat Acad Sci, 91 : 2839-42.
17. PALMER M.S., DRYDEN A.J., HUGHES J.T., COLLINGE J. (1991). Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature, 352 : 340-342.
18. 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., LUGARESI E., AUTILIO-GAMBETTI L., GAMBETTI P. (1995). Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann Neuro, 38 : 21-9.
19. SFORZA E., MONTAGNA P., TINUPER P., CORTELLI P., AVONI P., FERRILLO F., PETERSEN R., GAMBETTI P., LUGARESI E. (1995). Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation. Electroenceph Clin Neurophysiol, 94 : 398-405.
20. TATEISHI J., BROWN P., KITAMOTO T., HOQUE Z.M., Ross R., WOLLMAN R., CERVENAKOVA L., GAJDUSEK D.C. (1995). First experimental transmission of fatal familial insomnia. Nature, 376 : 434-5.
21. TINUPER P., MONTAGNA P., MEDORI R., CORTELLI P., ZUCCONI M;, BARUZZI A., LUGARESI E. (1989). The Thalamus participates in the regulation of the sleep-waking cycle. A clinico-pathological study in fatal familial thalamic degeneration. Electroenceph Clin Neurophysiol, 73 : 117-123.