Clinical features of Fatal Familial Insomnia: Phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene

Brain Pathology

Volumn 8, Issue 3, 1998, Pages 515-520

  Montagna, Pasquale ^a   Cortelli, Pietro ^a   Avoni, Patrizia ^a   Tinuper, Paolo ^a   Plazzi, Giuseppe ^a   Gallassi, Roberto ^a   Portaluppi, Francesco ^b   Julien, Jean ^c   Vital, Claude ^c   Delisle, Marie Bernadette ^d   Gambelti, Pierluigi ^e   Lugaresi, Elio ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c UNIVERSITÉ DE BORDEAUX   (France)

^d CHU RANGUEIL   (France)

^e CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUTONOMIC DYSFUNCTION; BRAIN METABOLISM; BRAIN SPONGIOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE COURSE; DNA POLYMORPHISM; FATAL FAMILIAL INSOMNIA; GENE MUTATION; GENETIC VARIABILITY; GLIOSIS; HETEROZYGOSITY; HUMAN; NEUROPATHOLOGY; PHENOTYPE; SLEEP WAKING CYCLE;

EID: 7144253795     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1998.tb00172.x     Document Type: Conference Paper

References (15)

1. Baker HF, Poulter M, Crow TJ, Frith CD, Lofthouse R, Ridley RM and Collinge J (1991) Amino acid polymorphism in human prion protein and age at death in inherited priori disease. Lancet 337: 1286
2. Chen SG, Parchi P, Brown P, Capellari S, Zou W, Cochran EJ, Vnencak-Jones CL, Julien J, Vital C, Mikol J, Lugaresi E, Autilio-Gambetti L and Gambetti P (1997) Allelic origin of the abnormal prion protein isoform in familial prion diseases. Nature Med 3: 1009-1015
3. Collinge J, Palmer MS, Dryden AJ (1991) Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 337: 1441-1442
4. Cortelli P, Parchi P, Contin M, Pierangeli G, Avoni P, Tinuper P, Montagna P, Baruzzi A, Gambetti P, Lugaresi E (1991) Cardiovascular dysautonomia in fatal familial insomnia. Clin Autonom Res 1: 15-21
5. Cortelli P, Perani D. Parchi P, Grassi F, Montagna P, De Martin M, Castellani R, Tinuper P, Gambetti P, Lugaresi E, and Fazio F (1997) Cerebral metabolism in fatal familial insomnia: Relation to duration, neuropathology, and distribution of protease-resistent prion protein. Neurology 49: 126-133
6. Gallassi R, Morreale A, Montagna P, Gambetti P, Lugaresi E (1992) "Fatal Familial Insomnia": neuropsychological study of a disease with thalamic degeneration. Cortex 28: 175-187
7. Gallassi R, Morreale A, Montagna P, Cortelli P, Avoni P, Castellani R, Gambetti P, and Lugaresi E (1996) Fatal Familial Insomnia: behavioral and cognitive features. Neurology 46: 935-939
8. Gambetti P, Medori R, Manetto V, Petersen R, LeBlanc A, Tritschler HJ, Monan L, Tabaton M, and Autilio-Gambetti L (1994) Fatal Familial Insomnia. A Prion Disease with Distinctive Histopathological and Genotypic Features. In: Guilleminault C, Lugaresi E, Montagna P, Gambetti P (eds.), Fatal Familial Insomnia. Inherited Prion Diseases, Sleep, and the Thalamus, Chapter 3, pp. 27-31, Raven Press, New York
9. Julien J. Vital C, Delepianque B, Lagueny A, Ferrer X (1990) Atrophie thalamique subaiguë familiale. Troubles mnésiques et insomnie totale. Rev Neurol (Paris) 146: 173-178
10. Lugaresi A, Baruzzi A, Cacciari E, Cortelli P, Medori R, Montagna P, Tinuper P, Zucconi M, Roiter l, Lugaresi E (1987) Lack of vegetative and endocrine circadian rhythms in fatal familial thalamic degeneration. Clin Endocrinol 26: 573-580.
11. Montagna P, Cortelli P, Tinuper P, Sforza E, Avoni P, Gallassi R, Morreale A, Roiter I, Perani D, Lucignani G, Fazio F, and Lugaresi E (1994) Fatal Familial Insomnia. A Disease That Emphasizes the Role of the Thalamus in the Regulation of Sleep and Vegetative Functions. In: Guilleminault C, Lugaresi E, Montagna P, Gambetti P (eds ), Fatal Familial Insomnia: Inherited Prion Diseases, Sleep, and the Thalamus, Chapter 1, pp. 1-14, Raven Press, New York
12. Medort R, Tritschier HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, Tinuper P, Avoni P, Mochi M, Baruzzi A, Hauw JJ, Ott J, Lugaresi E, Autilio-Gambetti L, and Gambetti P (1992) Fatal Familial Insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 326: 444-449
13. Owen F, Poulter M, Collinge J, Leach M, Shah T, Lofthouse R, Chen Y, Crow TJ, Harding AE, Hardy J and Rossor MN (1991) Insertions in the prion protein gene in atypical dementias. Exp Neurol 112: 240-242
14. Palmer MS, Dryden AJ, Hughes JT, Collinge J (1991) Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352:340-342
15. Parchi P, Castellani R, Cortelli P, Montagna P, Chen SG, Petersen RB, Manetto V, Vnencak-Jones CL, McLean MJ, Sheller JR, Lugaresi E, Autilio-Gambetti L, and Gambetti P (1995) Regional Distribution of Proteaseresistant Prion Protein in Fatal Familial Insomnia. Ann Neurol 38: 21-29