Research & Literature

Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases.

Forloni G, Tettamanti M, Lucca U, et al.

Prion 2015; (9(2)):75-9 doi:10.1080/19336896.2015.1027857.

Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene.

Sun L, Li X, Lin X, et al.

Prion 2015; (9(3)):228-35 doi:10.1080/19336896.2015.1054601.

Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature.

Peng B, Zhang S, Dong H, Lu Z

International journal of clinical and experimental pathology 2015; (8(9)):10171-7.

Identification of new molecular alterations in fatal familial insomnia.

Llorens F, Thüne K, Schmitz M, et al.

Human molecular genetics 2016; (25(12)):2417-2436 doi:10.1093/hmg/ddw108.

Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations.

Llorens F, Zarranz JJ, Fischer A, et al.

Current neurology and neuroscience reports 2017; (17(4)):30 doi:10.1007/s11910-017-0743-0.

Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial Insomnia.

Wu L, Lu H, Wang X, et al.

Scientific reports 2017; (7(1)):3625 doi:10.1038/s41598-017-03817-3.

Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report.

Sun C, Xia W, Liu Y, et al.

Medicine 2017; (96(49)):e8951 doi:10.1097/MD.0000000000008951.

Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review.

Yang TW, Park B, Kim KT, et al.

Medicine 2018; (97(18)):e0646 doi:10.1097/MD.0000000000010646.

Fatal familial insomnia and sporadic fatal insomnia.

Cracco L, Appleby BS, Gambetti P

Handbook of clinical neurology 2018; (153()):271-299 doi:10.1016/B978-0-444-63945-5.00015-5.

Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy.

Stevens JM, Levine MR, Constantino AE, Motamedi GK

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225155.

Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges.

Abu-Rumeileh S, Redaelli V, Baiardi S, et al.

Annals of neurology 2018; (84(3)):347-360 doi:10.1002/ana.25300.

[Clinical, neuroimaging and genetic features of two Chinese families with fatal familial insomnia].

Bian Y, Wang S, Han XC, et al.

Zhonghua yi xue za zhi 2018; (98(31)):2501-2504 doi:10.3760/cma.j.issn.0376-2491.2018.31.010.

Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications.

Baldelli L, Provini F

Autonomic neuroscience : basic & clinical 2019; (218()):68-86 doi:10.1016/j.autneu.2019.02.007.

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia.

He R, Hu Y, Yao L, et al.

Prion 2019; (13(1)):116-123 doi:10.1080/19336896.2019.1617027.

Age at onset in genetic prion disease and the design of preventive clinical trials.

Minikel EV, Vallabh SM, Orseth MC, et al.

Neurology 2019; (93(2)):e125-e134 doi:10.1212/WNL.0000000000007745.

Antisense oligonucleotides extend survival of prion-infected mice.

Raymond GJ, Zhao HT, Race B, et al.

JCI insight 2019; (5()).

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.

Schwartz M, Brandel JP, Babonneau ML, et al.

Frontiers in genetics 2019; (10()):895 doi:10.3389/fgene.2019.00895.

Diagnosis of prion diseases by RT-QuIC results in improved surveillance.

Rhoads DD, Wrona A, Foutz A, et al.

Neurology 2020; (95(8)):e1017-e1026 doi:10.1212/WNL.0000000000010086.

Fatal familial insomnia: A new case description with early response to immunotherapy.

Toribio-Díaz E, Quintas S, Peláez-Hidalgo A, et al.

Journal of neuroimmunology 2020; (346()):577321 doi:10.1016/j.jneuroim.2020.577321.

Stridor during sleep: description of 81 consecutive cases diagnosed in a tertiary sleep disorders center.

Silva C, Iranzo A, Maya G, et al.

Sleep 2021; (44(3)) doi:10.1093/sleep/zsaa191.

Genetic prion disease: D178N with 129MV disease modifying polymorphism-a clinical phenotype.

Tan TH, Stark RJ, Waterston JA, et al.

BMJ neurology open 2020; (2(2)):e000074 doi:10.1136/bmjno-2020-000074.

Fatal insomnia: the elusive prion disease.

Patel D, Ibrahim H, Rankin J, et al.

BMJ case reports 2021; (14(6)) doi:10.1136/bcr-2020-241289.

Doxycycline rescues recognition memory and circadian motor rhythmicity but does not prevent terminal disease in fatal familial insomnia mice.

Lavigna G, Masone A, Bouybayoune I, et al.

Neurobiology of disease 2021; (158()):105455 doi:10.1016/j.nbd.2021.105455.

Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.

Zhang J, Chu M, Tian Z, et al.

Journal of neurology, neurosurgery, and psychiatry 2022; (93(3)):291-297 doi:10.1136/jnnp-2021-327247.

A fatal familial insomnia patient newly diagnosed as having depression: A case report.

Yukang T, Jiaquan L, Xiaoling L, et al.

Medicine 2021; (100(41)):e27544 doi:10.1097/MD.0000000000027544.

A case of fatal familial insomnia: diagnostic and therapeutic approaches.

Rose DK, Liu AJ

Neurocase 2022; (28(1)):131-134 doi:10.1080/13554794.2021.2025249.

Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Schmitz M, Villar-Piqué A, Hermann P, et al.

Brain : a journal of neurology 2022; (145(2)):700-712 doi:10.1093/brain/awab350.

Can insomnia be fatal? An Australian case of fatal familial insomnia.

Habteslassie D, McMahon M, Wimaleswaran H

Internal medicine journal 2022; (52(4)):667-670 doi:10.1111/imj.15737.

Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study.

Xie K, Chen Y, Chu M, et al.

NeuroImage. Clinical 2022; (34()):103026 doi:10.1016/j.nicl.2022.103026.

Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement.

Forloni G, Roiter I, Artuso V, et al.

Prion 2022; (16(1)):66-77 doi:10.1080/19336896.2022.2083435.

Genetic counseling for prion disease: Updates and best practices.

Goldman JS, Vallabh SM

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(10)):1993-2003 doi:10.1016/j.gim.2022.06.003.

Sleep architecture and sleep-disordered breathing in fatal insomnia.

Pérez-Carbonell L, Muñoz-Lopetegi A, Sánchez-Valle R, et al.

Sleep medicine 2022; (100()):311-346 doi:10.1016/j.sleep.2022.08.027.

Genetic aspects of human prion diseases.

Appleby BS, Shetty S, Elkasaby M

Frontiers in neurology 2022; (13()):1003056 doi:10.3389/fneur.2022.1003056.

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

Kortazar-Zubizarreta I, Eraña H, Pereda A, et al.

Journal of neuropathology and experimental neurology 2023; (82(2)):169-179 doi:10.1093/jnen/nlac113.

Dysfunction of the cardiac parasympathetic system in fatal familial insomnia: a heart rate variability study.

Cui Y, Huang Z, Chu M, et al.

Sleep 2023; (46(4)) doi:10.1093/sleep/zsac294.

Clinical profiles and ethnic heterogeneity of sporadic fatal insomnia.

Chen Z, Chu M, Zhang J, et al.

European journal of neurology 2023; (30(4)):813-822 doi:10.1111/ene.15676.

From parasomnia to agrypnia excitata - An illustrative case on diagnostic approach.

Fong SL, Dy Closas AMF, Lim TT, et al.

Parkinsonism & related disorders 2023; (109()):105332 doi:10.1016/j.parkreldis.2023.105332.

[Fatal Familial Insomnia With Significant Correlations Between Involuntary Movements and Postural Changes:Report of One Case].

Zhang L, Sun H, Zhang SM, et al.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2024; (46(1)):135-138 doi:10.3881/j.issn.1000-503X.15589.

[Clinical characteristics and diagnostics of human spongiform encephalopathies: an update].

Hermann P, Goebel S, Zerr I

Der Nervenarzt 2024; (95(4)):376-384 doi:10.1007/s00115-024-01644-2.

Creutzfeldt-Jakob Disease and Fatal Familial Insomnia: Demographics and In-Hospital Mortality in Spain.

Cuadrado-Corrales N, Lopez-de-Andres A, Hernández-Barrera V, et al.

Journal of clinical medicine 2024; (13(15)) doi:10.3390/jcm13154401.

Agrypnia excitata: a human model to explore the derailment of sleep-wake cycle integrated control.

Mutti C, Baldelli L, Cortelli P, et al.

Journal of sleep research 2025; (34(2)):e14324 doi:10.1111/jsr.14324.

Fatal familial insomnia: Reporting a case of the rare nightmare.

Hogue E, Weinberg D, Palecek E

Journal of postgraduate medicine 2024; (70(4)):252-254 doi:10.4103/jpgm.jpgm_582_24.

A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.

Qiao M, Wu H, Chi L, et al.

BMC neurology 2024; (24(1)):489 doi:10.1186/s12883-024-03999-0.

Fatal familial insomnia: A new case description with response to thoracic sympathetic nerve thermocoagulation and stellate ganglion block.

Chen Y, Li Y, Zhou Y, et al.

Sleep medicine 2025; (127()):24-27 doi:10.1016/j.sleep.2024.12.034.

Clinical phenotype associated with A118V mutation of PRPN gene.

Giannelli T, Ladogana A, Tiple D, et al.

Journal of neurology 2025; (272(9)):635 doi:10.1007/s00415-025-13397-2.

Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.

Da Silva Correia A, Laginha I, Guimaraes S, et al.

Journal of neurology 2025; (272(10)):706 doi:10.1007/s00415-025-13432-2.

The Risk of Transmission of Genetic Prion Diseases is Greater Than 50.

Kortazar-Zubizarreta I, Manero-Azua A, Eraña H, et al.

European journal of neurology 2025; (32(12)):e70455 doi:10.1111/ene.70455.

Genetic causes and modifiers of prion diseases.

Mead S, Hermann P, Mok TH, et al.

The Lancet. Neurology 2026; (25(2)):181-194 doi:10.1016/S1474-4422(25)00451-X.

A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.

Shir D, Bregman N, David AB, et al.

European journal of neurology 2026; (33(6)):e70649 doi:10.1111/ene.70649.

A sleep that never comes: Prions and their role in fatal familial insomnia - a literature review.

Kalbarczyk W, Korczak K, Łysikowska M, et al.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2026; (54(3)):368-374 doi:10.36740/Merkur202603117.