Zarranz JJ, Digon A, Atares B, Rodriguez-Martinez AB, Arce A, Carrera N, Fernandez-Manchola I, Fernandez-Martinez M, Fernandez-Maiztegui C, Forcadas I, Galdos L, Gomez-Esteban JC, Ibanez A, Lezcano E, Lopez de MA, Marti-Masso JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM.
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW, et al. Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper P, Lugaresi E, Gambetti P. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, et al. Papers of particular interest, published recently, have been highlighted as: SummaryĪlthough the development of a therapy is still a major challenge, recent findings represent a step toward understanding of the clinical and molecular aspects of FFI. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery.
In addition, the generation of mouse models, the availability of ‘omics’ data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. New clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. This article reviews recent research on the clinical and molecular aspects of the disease. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression. Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene ( PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele.