Familial and sporadic fatal insomnia
P Montagna, P Gambetti, P Cortelli… - The Lancet …, 2003 - thelancet.com
Familial fatal insomnia (FFI)—a hereditary prion disease caused by a mutation at codon 178
of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein …
of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein …
Gerstmann–Sträussler–Scheinker syndrome, fatal familial insomnia, and kuru: a review ofthese less common human transmissiblespongiform encephalopathies
S Collins, CA McLean, CL Masters - Journal of Clinical Neuroscience, 2001 - Elsevier
Summary Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler–Scheinker syndrome
(GSS), fatal familial insomnia (FFI) and kuru constitute major human prion disease …
(GSS), fatal familial insomnia (FFI) and kuru constitute major human prion disease …
Prion protein conformation in a patient with sporadic fatal insomnia
JA Mastrianni, R Nixon, R Layzer… - … England Journal of …, 1999 - Mass Medical Soc
The human prion diseases include Creutzfeldt–Jakob disease, Gerstmann–Sträussler–
Scheinker disease, fatal familial insomnia, and the recently described new variant of …
Scheinker disease, fatal familial insomnia, and the recently described new variant of …
Fatal familial insomnia and sporadic fatal insomnia
L Cracco, BS Appleby, P Gambetti - Handbook of clinical neurology, 2018 - Elsevier
Fatal familial insomnia (FFI) and sporadic fatal insomnia (sFI), or thalamic form of sporadic
Creutzfeldt–Jakob disease MM2 (sCJDMM2T), are prion diseases originally named and …
Creutzfeldt–Jakob disease MM2 (sCJDMM2T), are prion diseases originally named and …
Interaction of metals with prion protein: possible role of divalent cations in the pathogenesis of prion diseases
CJ Choi, A Kanthasamy, V Anantharam… - Neurotoxicology, 2006 - Elsevier
Prion diseases are fatal neurodegenerative disorders that affect both humans and animals.
The rapid clinical progression, change in protein conformation, cross-species transmission …
The rapid clinical progression, change in protein conformation, cross-species transmission …
Fatal familial insomnia: a new Austrian family
G Almer, JA Hainfellner, T Brücke, K Jellinger… - Brain, 1999 - academic.oup.com
We present clinical, pathological and molecular features of the first Austrian family with fatal
familial insomnia. Detailed clinical data are available in five patients and autopsy in four …
familial insomnia. Detailed clinical data are available in five patients and autopsy in four …
Phenotypic variability in fatal familial insomnia (D178N-129M) genotype
Objective: To report the clinical and pathologic features of patients with the D178N-129M
mutation living in Germany. Methods: Patients with clinically suspected Creutzfeldt-Jakob …
mutation living in Germany. Methods: Patients with clinically suspected Creutzfeldt-Jakob …
The D178N (cis-129M)" fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred
CA McLean, E Storey, RJM Gardner… - Neurology, 1997 - AAN Enterprises
Fatal familial insomnia (FFI) is an inherited prion disease characterized by progressive
insomnia and dysautonomia with only modest cognitive impairment early in the disease …
insomnia and dysautonomia with only modest cognitive impairment early in the disease …
Fatal familial insomnia and agrypnia excitata: autonomic dysfunctions and pathophysiological implications
L Baldelli, F Provini - Autonomic Neuroscience, 2019 - Elsevier
Abstract Fatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at
codon 178 of the prion-protein gene leading to a D178N substitution in the protein …
codon 178 of the prion-protein gene leading to a D178N substitution in the protein …
Novel twelve‐generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression
A Harder, K Jendroska, F Kreuz, T Wirth… - American journal of …, 1999 - Wiley Online Library
We present a novel large German kindred of fatal familial insomnia (FFI) consisting of three
branches and comprising more than 800 individuals of 12 generations, the largest pedigree …
branches and comprising more than 800 individuals of 12 generations, the largest pedigree …