Research & Literature

Requirements for mutant and wild-type prion protein misfolding in vitro.

Noble GP, Walsh DJ, Miller MB, et al.

Biochemistry 2015; (54(5)):1180-7 doi:10.1021/bi501495j.

A new prion disease: relationship with central and peripheral amyloidoses.

Mead S, Reilly MM

Nature reviews. Neurology 2015; (11(2)):90-7 doi:10.1038/nrneurol.2014.263.

Prion Diseases.

Geschwind MD

Continuum (Minneapolis, Minn.) 2015; (21(6 Neuroinfectious Disease)):1612-38 doi:10.1212/CON.0000000000000251.

Quantifying prion disease penetrance using large population control cohorts.

Minikel EV, Vallabh SM, Lek M, et al.

Science translational medicine 2016; (8(322)):322ra9 doi:10.1126/scitranslmed.aad5169.

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Fong JC, Rojas JC, Bang J, et al.

Journal of Alzheimer's disease : JAD 2017; (55(1)):249-258 doi:10.3233/JAD-160300.

Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease.

Steinacker P, Blennow K, Halbgebauer S, et al.

Scientific reports 2016; (6()):38737 doi:10.1038/srep38737.

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Clift K, Guthrie K, Klee EW, et al.

Prion 2016; (10(6)):502-506 doi:10.1080/19336896.2016.1254858.

Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family.

Johnson MG, Bradley KK, Coffman RL, Belay ED

Journal of public health management and practice : JPHMP 2017; (23(6)):614-617 doi:10.1097/PHH.0000000000000464.

CJD mimics and chameleons.

Mead S, Rudge P

Practical neurology 2017; (17(2)):113-121 doi:10.1136/practneurol-2016-001571.

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.

Gastrostomy in patients with prion disease.

Iwasaki Y, Mori K, Ito M, et al.

Prion 2017; (11(3)):186-194 doi:10.1080/19336896.2017.1306164.

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

Crook A, Williams K, Adams L, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2017; (18(7-8)):475-485 doi:10.1080/21678421.2017.1332079.

Variable tau accumulation in murine models with abnormal prion protein deposits.

Piccardo P, King D, Brown D, Barron RM

Journal of the neurological sciences 2017; (383()):142-150 doi:10.1016/j.jns.2017.10.040.

A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.

Wang J, Xiao K, Zhou W, et al.

Prion 2018; (12(2)):150-155 doi:10.1080/19336896.2018.1447733.

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.

Gerstmann-Sträussler-Scheinker disease: A case report.

Zhao MM, Feng LS, Hou S, et al.

World journal of clinical cases 2019; (7(3)):389-395 doi:10.12998/wjcc.v7.i3.389.

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.

Wang J, Xiao K, Zhou W, et al.

Journal of clinical neurology (Seoul, Korea) 2019; (15(2)):184-190 doi:10.3988/jcn.2019.15.2.184.

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.

Human prion diseases.

Wang H, Rhoads DD, Appleby BS

Current opinion in infectious diseases 2019; (32(3)):272-276 doi:10.1097/QCO.0000000000000552.

Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.

Tesar A, Matej R, Kukal J, et al.

Annals of neurology 2019; (86(5)):643-652 doi:10.1002/ana.25579.

Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder.

Jiang AA, Longardner K, Dickson D, Sell R

BMJ case reports 2019; (12(8)) doi:10.1136/bcr-2019-229729.

Genetic Factors in Mammalian Prion Diseases.

Mead S, Lloyd S, Collinge J

Annual review of genetics 2019; (53()):117-147 doi:10.1146/annurev-genet-120213-092352.

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.

Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.

Hayashi Y, Iwasaki Y, Waza M, et al.

Prion 2020; (14(1)):109-117 doi:10.1080/19336896.2020.1739603.

Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.

Asante EA, Linehan JM, Tomlinson A, et al.

PLoS biology 2020; (18(6)):e3000725 doi:10.1371/journal.pbio.3000725.

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.

Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a De Novo Seven-Octapeptide Repeat Insertion.

Cali I, Cracco L, Saracino D, et al.

Frontiers in cellular neuroscience 2020; (14()):150 doi:10.3389/fncel.2020.00150.

Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing.

Rolf B, Blue EE, Bucks S, et al.

Journal of genetic counseling 2021; (30(3)):793-802 doi:10.1002/jgc4.1379.

Application of a framework to guide genetic testing communication across clinical indications.

Hallquist MLG, Tricou EP, Ormond KE, et al.

Genome medicine 2021; (13(1)):71 doi:10.1186/s13073-021-00887-x.

Rapid Neurocognitive Deterioration and Mortality in a Healthcare Professional With Spongiform Encephalopathy: Implications for Neurologic and End-of-Life Care.

Kortz MW, Kongs BM, Middleton LE

Cureus 2021; (13(4)):e14277 doi:10.7759/cureus.14277.

Structure of Tau filaments in Prion protein amyloidoses.

Hallinan GI, Hoq MR, Ghosh M, et al.

Acta neuropathologica 2021; (142(2)):227-241 doi:10.1007/s00401-021-02336-w.

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.

Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report.

Nakane A, Hasegawa S, Ishii M, et al.

International journal of environmental research and public health 2021; (18(18)) doi:10.3390/ijerph18189734.

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.

Brennecke N, Cali I, Mok TH, et al.

Viruses 2021; (13(9)) doi:10.3390/v13091794.

Clinical and Radiological Deterioration in a Case of Creutzfeldt-Jakob Disease following SARS-CoV-2 Infection: Hints to Accelerated Age-Dependent Neurodegeneration.

Ciolac D, Racila R, Duarte C, et al.

Biomedicines 2021; (9(11)) doi:10.3390/biomedicines9111730.

Defining the Critical Components of Informed Consent for Genetic Testing.

Ormond KE, Borensztein MJ, Hallquist MLG, et al.

Journal of personalized medicine 2021; (11(12)) doi:10.3390/jpm11121304.

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.

Estimation of the number of inherited prion disease mutation carriers in the UK.

Corbie R, Campbell T, Darwent L, et al.

European journal of human genetics : EJHG 2022; (30(10)):1167-1170 doi:10.1038/s41431-022-01132-8.

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.

Cryo-EM structures of prion protein filaments from Gerstmann-Sträussler-Scheinker disease.

Hallinan GI, Ozcan KA, Hoq MR, et al.

Acta neuropathologica 2022; (144(3)):509-520 doi:10.1007/s00401-022-02461-0.

Amino Acid Substitution within Seven-Octapeptide Repeat Insertions in the Prion Protein Gene Associated with Short-Term Course.

Chen Z, Nan H, Kong Y, et al.

Viruses 2022; (14(10)) doi:10.3390/v14102245.

Improving Early Recognition of Creutzfeldt-Jakob Disease Mimics.

Lazar EB, Porter AL, Prusinski CC, et al.

Neurology. Clinical practice 2022; (12(6)):406-413 doi:10.1212/CPJ.0000000000200097.

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.

Hamada S, Takahashi-Iwata I, Satoh K, et al.

Human genome variation 2023; (10(1)):10 doi:10.1038/s41439-023-00237-w.

Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.

Vears DF, Boyle J, Jacobs C, et al.

Twin research and human genetics : the official journal of the International Society for Twin Studies 2023; (26(2)):188-194 doi:10.1017/thg.2023.15.

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).

Van den Broecke A, Decruyenaere A, Schuermans N, et al.

Journal of neurology 2024; (271(1)):263-273 doi:10.1007/s00415-023-11968-9.

The Role of PET Imaging in Patients with Prion Disease: A Literature Review.

Mattoli MV, Giancipoli RG, Cocciolillo F, et al.

Molecular imaging and biology 2024; (26(2)):195-212 doi:10.1007/s11307-024-01895-0.

Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study.

Howard J, Forrest Keenan K, Mazanderani F, et al.

Journal of genetic counseling 2025; (34(1)):e1904 doi:10.1002/jgc4.1904.

Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion.

Vallabh SM, Mortberg MA, Allen SW, et al.

Neurology 2024; (103(2)):e209506 doi:10.1212/WNL.0000000000209506.

Prion diseases motor and neuropsychiatric symptom cluster pharmacotherapy: structured scoping review.

Hogg R, Centola J, McDermott EA, et al.

BMJ supportive & palliative care 2024; (14(e3)):e2397-e2410 doi:10.1136/spcare-2024-005027.

Convergent generation of atypical prions in knockin mouse models of genetic prion disease.

Mehra S, Bourkas ME, Kaczmarczyk L, et al.

The Journal of clinical investigation 2024; (134(15)).

Dopaminergic neurodegeneration in Gerstmann-Sträussler-Scheinker (P102L) disease: insights from imaging and pathological examination.

Irie KI, Honda H, Tateishi T, et al.

Frontiers in neurology 2024; (15()):1452709 doi:10.3389/fneur.2024.1452709.

The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.

Holm-Mercer L, Coysh T, Mok TH, et al.

Journal of neurogenetics 2025; (39(1)):16-22 doi:10.1080/01677063.2024.2440395.

Inherited Prion Disease with a 5-octapeptide Repeat Insertion in the PRNP Gene Presenting with Familial Juvenile Dementia.

Nishikawa M, Takeda A, Miyazawa N, et al.

Internal medicine (Tokyo, Japan) 2025; (64(18)):2769-2773 doi:10.2169/internalmedicine.5143-24.

Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157.

Holm-Mercer L, Mok TH, Sequeira D, et al.

Journal of Alzheimer's disease : JAD 2025; (106(3)):1087-1096 doi:10.1177/13872877251351182.

Insights into the Diagnosis, Treatment, and Management of Prion Diseases.

Callista VA, Hatware KV, Ingle PV

CNS & neurological disorders drug targets 2026; (25(1)):25-38 doi:10.2174/0118715273381241250620114740.

Palliative Care Resource Utilization in Patients With Prion Disease.

Zayat R, Piura YD, Appleby BS, et al.

Neurology 2025; (105(6)):e214076 doi:10.1212/WNL.0000000000214076.

Mortality of individuals with antemortem genetic testing for PRNP variants in the United States, 1998-2024.

Lian Y, Kotobelli K, Glisic K, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.10.03.25337271.

Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.

Appleby BS, Manca M, Piazza MS, et al.

Acta neuropathologica 2026; (151(1)):5 doi:10.1007/s00401-026-02975-x.

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.

Human Prion Disease: Pathogenesis, Diagnosis and Public Health.

Bellini P, Ruggiero F, Benedetti A, et al.

Viruses 2026; (18(2)) doi:10.3390/v18020216.

Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review.

Geng Q, Liu R, Xia J, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(6)).

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.

Performance of Alzheimer Disease Plasma Biomarkers in Patients With Prion Diseases.

Coysh T, Laban R, Veleva E, et al.

Neurology 2026; (107(3)):e214712 doi:10.1212/WNL.0000000000214712.

Mortality of Individuals With PRNP Variants Associated With Prion Disease in the United States, 1998-2024.

Lian Y, Kotobelli K, Glisic K, et al.

Neurology. Genetics 2026; (12(5)):e200423 doi:10.1212/NXG.0000000000200423.

Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.

Elgenidi A, Shir D, Piura YD, et al.

Journal of neurology 2026; (273(10)).