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Open research questions in Prion Diseases and Protein Misfolding

142 gap statements mined from Prion Diseases and Protein Misfolding papers in our 4.5M-paper local library, which holds 462 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • Limited evidence base for managing prion diseases. Need for early involvement of palliative care and supportive care.

    Multidisciplinary recommendations for palliative and supportive care in Creutzfeldt-Jakob disease and related disorders · 2026 · DOI

  • Limited evidence base for managing prion diseases. Lack of familiarity with this rare diagnosis among healthcare professionals. Need for guidance on supportive care and symptom management.

    Multidisciplinary recommendations for palliative and supportive care in Creutzfeldt-Jakob disease and related disorders · 2026 · DOI

  • The lack of knowledge on the genetic characteristics of the PRND gene in bats. The need to investigate the genetic associations between PRND and PRNP SNPs.

    First report of polymorphisms and genetic characteristics of the prion-like protein gene (PRND) in bats · 2026 · DOI

  • The study aims to address this gap by investigating the transmission and characterization of these diseases in deer mice.

    Transmission and Characterization of Creutzfeldt–Jakob Disease and Chronic Wasting Disease in the North American Deer Mouse · 2025 · DOI

  • Chronic traumatic encephalopathy (CTE) is a tauopathy associated with repetitive head impacts, experienced most commonly in contact sports; however, its relationship with prion diseases remains unclear.

    Chronic traumatic encephalopathy in a neuropathologically confirmed Creutzfeldt–Jakob disease cohort · 2026 · DOI

  • Although several mutations have been strongly linked to disease manifestation, the penetrance of many variants remains uncertain.

    Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases · 2026 · DOI

  • The role of this protein in the spread of other misfolded proteins, like prions, has not been explored.

    The Progression of Prion Diseases Is Not Altered in the Absence of TMEM106B · 2026 · DOI

  • Bank voles are susceptible to prion strains from many different species, yet the molecular mechanisms underlying the ability of bank vole prion protein (BVPrP) to function as a universal prion acceptor remain unclear.

    The brain interactome of a permissive prion replication substrate · 2025 · DOI

  • Despite significant research, the exact molecular mechanisms driving PrP C to PrP Sc conversion remain elusive and are thought to involve multiple molecules or cofactors.

    Exploring the impact of SerpinA3n deficiency on prion strains propagation · 2025 · DOI

  • However, the precise ways in which these polymorphisms affect protein integrity and how they contribute to misfolding propensity remain unclear.

    Effect of primary structural variation on cervid prion protein in flexibility, stability, and spontaneous misfolding propensity · 2025 · DOI

  • Systemic metabolic and inflammatory disturbances are implicated in neurodegenerative diseases, but comprehensive metabolomic profiling in Creutzfeldt-Jakob disease (CJD) remains limited, and the potential interplay between peripheral metabolism and inflammatory or tissue-remodeling processes is poorly understood.

    Integrated peripheral metabolic and inflammatory biomarker signatures are associated with clinical deterioration in Creutzfeldt–Jakob disease · 2025 · DOI

  • The higher levels of sNfL and sGFAP in CJD patients compared to healthy controls, along with the observed sex differences in sGFAP, highlight the need for further research into the interaction between astroglia and neurons in CJD, with a focus on sex as a key variable.

    Serum growth differentiation factor-15, glial fibrillary acidic protein, and neurofilament light chain: Their link and role in Creutzfeldt-Jakob disease · 2024 · DOI

  • There is a lack of understanding of the factors influencing disease onset, progression, and severity in individuals carrying the same 5-OPRI mutation. The clinical heterogeneity of 5-OPRI-associated gCJD is not well characterized.

    Genetic Creutzfeldt–Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review · 2026 · DOI

  • Therefore, the biological significance of these variants in prion pathogenesis remains unclear and requires further validation using larger sample sizes and functional experiments. Therefore, future studies are required to elucidate how SPRN genetic variation contributes to prion pathogenesis.

    The First Report of Genetic Characteristics and Polymorphisms in the Shadow of Prion Protein Gene (SPRN) in Bats · 2026 · DOI

  • Signal transducer and activator of transcription 3 (Stat3) is a master regulator of reactive astrocytes in numerous neurological disorders, but its role in prion disease has not been established.

    Targeting Astrocytic Stat3 Reveals Context-Dependent Modulation of Prion Disease · 2026 · DOI

  • While the exact drivers of this resolution remain to be elucidated, regulation of programmed cell death remains a candidate. Whether these structural alterations translate into functional visual deficits remains to be established; electroretinography and optokinetic tracking represent direct approaches to address this question and are a priority for future work.

    Cellular Prion Protein as a Novel Regulator of Vascular Plexus Stability During Retinal Angiogenesis · 2026 · DOI

  • There is a lack of studies on the use of nursing models in caring for patients with Creutzfeldt-Jakob disease. There is a need for a comprehensive approach to nursing care for patients with this disease.

    Creutzfeldt-Jakob Hastasında Cerrahi Girişimler Sonrası Hemşirelik Bakımının Günlük Yaşam Aktiviteleri Modeline Göre Değerlendirilmesi: Olgu Sunumu · 2026 · DOI

  • In many neurodegenerative diseases, the neuropathologic phenotypes at the level of the retina are not well known, even though the retina is part of the CNS.

    Distinctive properties of the prion protein in the brain and retina in the amyloidosis associated with the PRNP F198S mutation · 2026 · DOI

  • The paper identifies a gap in the diagnosis of prion disease mimicking rapidly progressive AD, highlighting the need for accurate diagnostic methods. The study notes that AD is far more prevalent than prion disease, and is itself a common cause of RPD, increasing the likelihood of misdiagnosis.

    Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review · 2026 · DOI

  • Living at risk of a neurodegenerative condition such as inherited prion disease (IPD) is associated with substantial psychological burden, yet evidence-based supportive interventions are lacking.

    A brief acceptance and commitment therapy intervention for individuals at risk of neurodegenerative disease: A translational study in inherited prion disease · 2026 · DOI

  • Acceptance and Commitment Therapy (ACT), a transdiagnostic intervention targeting psychological flexibility, has shown promise in chronic health contexts but has not been evaluated in individuals at genetic risk.

    A brief acceptance and commitment therapy intervention for individuals at risk of neurodegenerative disease: A translational study in inherited prion disease · 2026 · DOI

  • The development of effective therapeutic avenues for the disease is a challenge. The understanding of the epidemiology and pathogenesis of the disease is limited.

    Sporadic Creutzfeldt–Jakob disease: a multidimensional review from epidemiology to treatment and prognosis · 2026 · DOI

  • The study only analyzed greater horseshoe bats, - The sample size was limited to 98 bat samples, - The study did not investigate the functional effects…

    First report of polymorphisms and genetic characteristics of the prion-like protein gene (PRND) in bats · 2026 · DOI

  • These insights highlight the complex interplay between genetic variation and disease risk, necessitating further investigation into the genetic epidemiology of gPrD.

    Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases · 2026 · DOI

  • Further study of AD-prion disease mimics, - Investigation of CSF t-tau levels and t-tau/p-tau181 ratios in patients with RPD, - Development of more accurate diagnostic tests for prion…

    Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review · 2026 · DOI

Most-cited papers in Prion Diseases and Protein Misfolding

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Open questions raised by papers listed on this page include: (1) Lack of familiarity with this rare diagnosis among healthcare professionals (“Multidisciplinary recommendations for palliative and supportive care in…”, 2026); (2) The lack of knowledge on the genetic characteristics of the PRND gene in bats (“First report of polymorphisms and genetic characteristics of the prion-like…”, 2026); (3) Chronic traumatic encephalopathy (CTE) is a tauopathy associated with repetitive head impacts, experienced most commonly in contact sports; however, its relationship with prion diseases remains unclear (“Chronic traumatic encephalopathy in a neuropathologically confirmed…”, 2026); (4) The role of this protein in the spread of other misfolded proteins, like prions, has not been explored (“The Progression of Prion Diseases Is Not Altered in the Absence of TMEM106B”, 2026); (5) There is a lack of understanding of the factors influencing disease onset, progression, and severity in individuals carrying the same 5-OPRI mutation (“Genetic Creutzfeldt–Jakob disease associated with 5-octapeptide repeat…”, 2026). 142 gap statements have been mined from Prion Diseases and Protein Misfolding papers in our 4.5M-paper local library, which holds 462 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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