A subtype of sporadic prion disease mimicking fatal familial insomnia
NeurologyPublished 1 June 1999
Piero Parchi, Sabina Capellari, Steven Chin, Heidi B. Schwarz, N.P. Schecter, John D. Butts
Citations186
SJR quartileQ1
SJR score2.40
SNIP1.82
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
This condition is likely to represent the sporadic form of FFI and the term “sporadic fatal insomnia” is proposed.
Abstract
This condition is likely to represent the sporadic form of FFI and the term "sporadic fatal insomnia" is proposed.
Keywords
NeuroscienceBiochemistry, Genetics and Molecular Biology
Annals of NeurologyClassification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects
1,425 Citations1999Piero Parchi, Armin Giese +16 more
The present data demonstrate the existence of six phenotypic variants of sCJD, and the physicochemical properties of PrPSc in conjunction with the PRNP codon 129 genotype largely determine this phenotypesic variability, and allow a molecular classification of the disease variants.
SciencePrion Diseases and the BSE Crisis
959 Citations1997Stanley B. Prusiner
There is now considerable concern that bovine prions may have been passed to humans, resulting in a new form of CJD.
Annals of NeurologyMolecular basis of phenotypic variability in sporadc creudeldt‐jakob disease
877 Citations1996Piero Parchi, Rudolph J. Castellani +10 more
The data indicate that the sporadic form of Creutzfeldt‐Jakob disease comprises a limited number of variants, and the methionine/valine polymorphism at codon 129 of the prion protein gene and two types of protease‐resistant prion proteins are the major determinants of these variants.
PubMedAbnormal isoform of prion proteins accumulates in the synaptic structures of the central nervous system in patients with Creutzfeldt-Jakob disease.
270 Citations1992Tetsuyuki Kitamoto, R W Shin +5 more
In CJD patients with a long clinical course, synaptophysin immunoreactivity decreased, and synaptic PrPCJD accumulated with a wider distribution, suggesting that synaptic Pr PCJD accumulations might be responsible for the neuronal dysfunction and degeneration in CJD.
NeurologyFatal familial insomnia
199 Citations1992Valeria Manetto, R. Medori +14 more
The pedigree as well as the clinical and neuropathologic findings in five new subjects are presented, and it is concluded that FFI is a multisystem disease in which the different structures are primarily affected with different severity.
Annals of NeurologyRegional distribution of protease‐resistant prion protein in fatal familial insomnia
160 Citations1995Piero Parchi, Rudy J. Castellani +11 more
Findings indicate that in fatal familial insomnia, the pathological phenotype is the result of the variability, in different brain regions, of the timing and rate of accumulation of protease‐resistant prion protein, and (2) vulnerability to the presence of prote enzyme‐resistantPrion protein.
Journal of Biological ChemistryEffect of the D178N Mutation and the Codon 129 Polymorphism on the Metabolism of the Prion Protein
148 Citations1996Robert B. Petersen, Piero Parchi +3 more
PrP processing in cells transfected with constructs reproducing the FFI and CJD genotypes is analyzed to offer new insight into the effect of the D178N mutation on the metabolism of the prion protein.
Nature MedicineAllelic origin of the abnormal prion protein isoform in familial prion diseases
88 Citations1997Shu G. Chen, Piero Parchi +11 more
Investigating the allelic origin of PrPres in brains of subjects heterozygous for the D178N mutation linked to fatal familial insomnia and a subtype of Creutzfeldt-Jakob disease, as well as for insertional mutations associated with another CJD subtype, found that only mutant PrP was detergent-insoluble and protease-resistant.
Current Opinion in NeurologyHuman prion diseases
88 Citations1995Piero Parchi, Pierluigi Gambetti
An impressive body of evidence suggests that (1) the normal prion protein plays a central role in prion replication; (2) the replication process implies an interaction between the normalPrion protein and the pathogenic prionprotein; and (3) the pathogen protein is the infectious agent, the infectivity of which is dependent on its abnormal conformation.
NeurologyPhenotypic variability in fatal familial insomnia (D178N-129M) genotype
79 Citations1998Inga Zerr, Armin Giese +8 more
The clinical presentation in patients with FFI may vary to a great extent, and genotyping of the patients was crucial in providing laboratory confirmation of the diagnosis of FFI, even when there was no family history of a prion disease.
Nucleic Acids ResearchDirect sequencing of PCR products in agarose ge l slices
58 Citations1994Sangeeta Khorana, Robert F. Gagel +1 more
A strategy for direct sequencing of PCR products using a simple modification of the standard Sequenase® protocol (U.S. Biochemicals, Cleveland, OH) is devised.
Acta NeuropathologicaThalamic form of Creutzfeldt-Jakob disease or fatal insomnia? Report of a sporadic case with normal prion protein genotype
31 Citations1997Koichi Kawasaki, Koichi Wakabayashi +5 more
The present case appears to draw further attention to the possible relationship between CJD and FI, and was initially considered to be a case of the thalamic form of Creutzfeldt-Jakob disease with a long duration.
European Archives of Psychiatry and Clinical NeuroscienceSystem degeneration of the thalamus
19 Citations1981A. Hori, K. Ikeda +3 more
A 43-year-old Japanese male, who, a few weeks after mild head trauma, suffered from forgetfulness, psychomotor slowing, and Korsakoff's syndrome, died 9 months after the onset of symptoms and neuropathological examination revealed symmetrical thalamic degeneration, whose distribution corresponded to phylogenetically younger subunits of the thalamus.
PubMedPure thalamic dementia with a single focus of spongiform change in cerebral cortex.
15 Citations1994Mario Kornfeld, D. F. Seelinger
A case which in addition to the neuropathological changes typical of primary thalamic degeneration showed a single small focus of spongiform change in the cerebral cortex probably represents a variant of theThalamic form of Creutzfeldt Jakob Disease.
PubMed[Dementia and disturbance of consciousness in thalamic degeneration].
8 Citations1987T Yagishita, Satoshi Kojima +4 more
Retrospective considerations showed that dementia had appeared at first, and subsequently the disturbance of consciousness had joined, and it seems that they finally caused akinetic mutism.
Fortschritte der Neurologie · PsychiatrieDie ,,Thalamus-Demenz"
7 Citations1985È. Siska, Gy. Geréby +1 more
A slowly advancing reduction of the function of the meso-diencephalic activ ating system proved responsible for the development of the EEG changes.