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Fatal Familial Insomnia

An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS).
Also Known As:
Insomnia, Fatal Familial; Familial Fatal Insomnia; Insomnia Familial Fatal; Familial Fatal Insomnias; Familial Fatal, Insomnia; Familial Fatals, Insomnia; Fatal Familial Insomnias; Fatal Insomnia, Familial; Fatal Insomnias, Familial; Fatal, Insomnia Familial; Fatals, Insomnia Familial; Insomnia Familial Fatals; Insomnia, Familial Fatal; Insomnias, Familial Fatal; Insomnias, Fatal Familial
Networked: 184 relevant articles (0 outcomes, 8 trials/studies)

Disease Context: Research Results

Related Diseases

1. Prion Diseases (Transmissible Spongiform Encephalopathies)
2. Creutzfeldt-Jakob Syndrome (Creutzfeldt-Jakob Disease)
3. Sporadic Creutzfeldt-Jakob Disease
4. Kuru
5. Scrapie

Experts

1. Zerr, Inga: 9 articles (01/2022 - 10/2009)
2. Llorens, Franc: 7 articles (01/2022 - 01/2016)
3. Schmitz, Matthias: 7 articles (01/2022 - 05/2014)
4. Chiesa, Roberto: 6 articles (10/2022 - 09/2013)
5. Dong, Xiao-Ping: 6 articles (01/2022 - 10/2008)
6. Parchi, Piero: 6 articles (01/2019 - 10/2004)
7. Chen, Cao: 5 articles (01/2022 - 08/2013)
8. Shi, Qi: 5 articles (01/2018 - 10/2008)
9. Cortelli, Pietro: 5 articles (03/2014 - 12/2002)
10. Lugaresi, Elio: 5 articles (03/2014 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fatal Familial Insomnia:
1. Prion ProteinsIBA
2. Codon (Codons)IBA
3. Methionine (L-Methionine)FDA Link
4. Valine (L-Valine)FDA Link
12/15/2013 - "Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism?"
01/01/2020 - "The D178N mutation is associated with both Creutzfeldt-Jakob disease and fatal familial insomnia with the phenotype modified by a polymorphism at codon 129 with the methionine/valine (MV) polymorphism associated with atypical presentations leading to diagnostic difficulty. "
10/01/2022 - "Methionine/valine polymorphism at position 129 of the human prion protein, huPrP, is tightly associated with the pathogenic phenotype, disease progress, and age of onset of neurodegenerative diseases such as Creutzfeldt-Jakob disease or Fatal Familial Insomnia. "
08/01/2004 - "The present study examines by immunohistochemistry Dpl expression in brain samples from 10 patients with Alzheimer's disease (AD), three patients with Pick's disease, four patients with Parkinson's disease, eight patients with diffuse Lewy body disease (DLBD), six patients with sporadic Creutzfeldt-Jakob disease (CJD) methionine/methionine at the codon 129, two patients with sporadic CJD methionine/valine at the codon 129 and numerous kuru plaques in the cerebellum, one patient with fatal familial insomnia (FFI), and 10 age-matched controls. "
12/01/1998 - "We describe clinical and pathologic features of a patient with fatal familial insomnia (FFI) whose prion (PrP) genotype is D178N coupled with methionine at codon 129 on his mutant allele and valine at codon 129 on his normal allele. "
5. Glucose (Dextrose)FDA LinkGeneric
6. Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link
7. Proteins (Proteins, Gene)FDA Link
8. Biomarkers (Surrogate Marker)IBA
9. PrionsIBA
10. Peptide Hydrolases (Proteases)FDA Link

Therapies and Procedures

1. Noninvasive Ventilation
2. Vagus Nerve Stimulation
3. Therapeutics
4. Radiotherapy
5. Immunotherapy