A subtype of sporadic prion disease mimicking fatal familial insomnia

Neurology

Volumn 52, Issue 9, 1999, Pages 1757-1763

  Parchi, P ^a   Capellari, S ^a   Chin, S ^b   Schwarz, H B ^c   Schecter, N P ^d   Butts, J D ^e   Hudkins, P ^f   Burns, O K ^g   Powers, J M ^a   Gambetti, P ^b  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b Coll Phys Surgs of Columbia Univ ^*  (United States)

^c UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^d WAKEMED HEALTH AND HOSPITALS   (United States)

^e IL   (United States)

^f United Regional Health Care System   (United States)

^g EAST TEXAS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; PRION PROTEIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; DISEASE SEVERITY; DYSAUTONOMIA; FATAL FAMILIAL INSOMNIA; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MOTOR DYSFUNCTION; PRION DISEASE; PRIORITY JOURNAL; SLEEP DISORDER; THALAMUS NUCLEUS;

EID: 0032976574     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.9.1757     Document Type: Article

References (18)

1. Prusiner SB. Prion diseases and the BSE crisis. Science 1997; 278:245-251.
2. Parchi P, Gambetti P, Piccardo P, Ghetti B. Human prion diseases. In: Kirkham N, Lemoine NR, eds. Progress in pathology. Edinburgh: Churchill Livingstone, 1998;4:39-77.
3. Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999 (in press).
4. Parchi P, Castellan! R, Cortelli P, et al. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann Neurol 1995;38:21-29.
5. Parchi P, Capellari S, Chin S, et al. Fatal sporadic insomnia (thalamic form of sporadic Creutzfeldt-Jakob disease). J Neuropathol Exp Neurol 1998;57:518. Abstract.
6. Khorana S, Gagel RF, Cote GJ. Direct sequencing of PCR products in agarose gel slices. Nucleic Acids Res 1994;22: 3425-3426.
7. Parchi P, Castellani R, Capellari S, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1996;39:767-778.
8. Kitamoto T, Shin RW, Doh-ura K, et al. Abnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease. Am J Pathol 1992;140:1285-1294.
9. Zerr I, Giese A, Windl O, et al. Phenotypic variability in fatal familial insomnia (D178N-129M) genotype. Neurology 1998; 51:1398-1405.
10. Manetto V, Medori R, Cortelli P, et al. Fatal familial insomnia: Clinical and pathological study of five new cases. Neurology 1992;42:312-319.
11. Kawasaki K, Wakabayashi K, Kawakami A, et al. Thalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype. Acta Neuropathol 1997;93:317-322.
12. Hori A, Ikeda K, Kosaka K, Shinohara S, lizuka R. System degeneration of the thalamus. A clinico-neuropathological study. Arch Psychiatr Nervenkr 1981;231:71-80.
13. Hirano Y, Katayama S, Yokoyama S, Honma K, Nakajima S. Thalamic degeneration: An autopsy case of thalamic degeneration: Review of the literature. Clin Neurol 1984;24:1039-1049.
14. Yagishita T, Kojima S, Arai K, Hirayama K, Akai J, Take- mura K. Dementia and disturbances of consciousness in thalamic degeneration. No To Shinkei 1987;39:79-85.
15. Siska E, Gareby GY, Tariska ST. Die Thalamus-Demenz. Fortschr Neurol Psychiatr 1985;54:302-311.
16. Kornfeld M, Seelinger DF. Pure thalamic dementia with a single focus of spongiform change in cerebral cortex. Clin Neuropathol 1994;13:77-81.
17. Petersen RB, Parchi P, Richardson SL, Urig CB, Gambetti P. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J Biol Chem 1996;271:12661-12668.
18. Chen SG, Parchi P, Brown P, et al. Allelic origin of the abnormal prion proteins in familial prion diseases. Nat Med 1997;3: 1009-1015.