The DOI matches its Crossref record.
Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178
Abstract
Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second family further validates FFI as a distinct disease entity and a phenotype of the GAC----AAC mutation at codon 178 of the prion gene.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
The Central Autonomic Network: Functional Organization, Dysfunction, and Perspective
BENARROCH, E. E. (1993) · Mayo Clinic Proceedings · doi:10.1016/s0025-6196(12)62272-1 · Cited by 1,534
Prion Diseases of Humans and Animals: Their Causes and Molecular Basis
Collinge, J. (2001) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.24.1.519 · Cited by 1,344
Physiology of the prion protein
Linden, R., Martins, V. R., Prado, M. A. M., Cammarota, M., Izquierdo, I., & Brentani, R. R. (2008) · Physiological Reviews · doi:10.1152/physrev.00007.2007 · Cited by 617
Quantifying prion disease penetrance using large population control cohorts
Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aad5169 · Cited by 442
Self-citationFamilial and sporadic fatal insomnia
Montagna, P., Gambetti, P., Cortelli, P., & Lugaresi, E. (2003) · The Lancet Neurology · doi:10.1016/s1474-4422(03)00323-5 · Cited by 354
Self-citation
Metadata
- Authors
- Medori, R., Montagna, P., Tritschler, H. J., LeBlanc, A., Cortelli, P., Tinuper, P., Lugaresi, E., & Gambetti, P.
- Venue
- Neurology
- Published
- 1992-03
- Volume
- 42
- Issue
- 3
- Pages
- 669-669
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2002709428
- Cited by
- 204
- References
- 0
- FWCI
- 6.49
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178. https://app.cochat.ai/papers/10.1212/wnl.42.3.669
- The paper
- Medori, R., Montagna, P., Tritschler, H. J., LeBlanc, A., Cortelli, P., Tinuper, P., Lugaresi, E., & Gambetti, P. (1992). Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178. Neurology. https://doi.org/10.1212/wnl.42.3.669
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
