Cerebral cortex swelling in V180I genetic Creutzfeldt–Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt–Jakob disease in the early stage

References

• Prusiner SB. Prions. Proc Natl Acad Sci U S A. 1998;95(23):13363–13383.
   PubMed Web of Science ®Google Scholar
• Kovács GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet. 2005;118(2):166–174. DOI:10.1007/s00439-005-0020-1
   PubMed Web of Science ®Google Scholar
• Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain. 2010;133(10):3043–3057. DOI:10.1093/brain/awq216
   PubMedGoogle Scholar
• Jin K, Shiga Y, Shibuya S, et al. Clinical features of Creutzfeldt-Jakob disease with V180I mutation. Neurology. 2004;62(3):502–505. DOI:10.1212/01.WNL.0000106954.54011.80
   PubMed Web of Science ®Google Scholar
• Qina T, Sanjo N, Hizume M, et al. Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ Open. 2014;4(5):e004968. DOI:10.1136/bmjopen-2014-004968
   PubMed Web of Science ®Google Scholar
• Mutsukura K, Satoh K, Shirabe S, et al. Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. Dement Geriatr Cognit Disord. 2009;28(6):550–557. DOI:10.1159/000254842
   PubMed Web of Science ®Google Scholar
• Tsuruoka A, Shiraishi M, Tanaka K, et al. A case of familial prion disease diagnosed as Alzheimer’s disease for 5 years. J St Marianna Univ. 2016;7(2):125–129. DOI:10.17264/stmarieng.7.125
   Google Scholar
• Shiga Y, Miyazawa K, Sato S, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology. 2004;63(3):443–449. DOI:10.1212/01.WNL.0000134555.59460.5D
   PubMed Web of Science ®Google Scholar
• Vitali P, Maccagnano E, Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology. 2011;76(20):1711–1719. DOI:10.1212/WNL.0b013e31821a4439
   PubMed Web of Science ®Google Scholar
• Sugiyama A, Beppu M, Kuwabara S. Teaching NeuroImages: cerebral cortex swelling in Creutzfeldt-Jakob disease with V180I mutation. Neurology. 2018;91(2):e185–186.
   PubMed Web of Science ®Google Scholar
• Suzuki Y, Sugiyama A, Muto M, et al. Early diagnosis of V180I genetic Creutzfeldt-Jakob disease at the preserved cognitive function stage. Cureus. 2022;14(3):e23374. DOI:10.7759/cureus.23374
   PubMed Web of Science ®Google Scholar
• Iwasaki Y, Mori K, Ito M, et al. A case of V180I genetic Creutzfeldt–Jakob disease presenting with conspicuous facial mimicry. Prion. 2019;13(1):151–155. DOI:10.1080/19336896.2019.1651181
   PubMed Web of Science ®Google Scholar
• Yasuda M, Sugiyama A, Hokkoku H, et al. Propagation of diffusion-weighted MRI abnormalities in the preclinical stage of sporadic Creutzfeldt-Jakob disease. Neurology. 2022;99(16):699–702. DOI:10.1212/WNL.0000000000201221
   PubMed Web of Science ®Google Scholar
• Satoh K, Nakaoke R, Nishiura Y, et al. Early detection of sporadic CJD by diffusion-weighted MRI before the onset of symptoms. J Neurol Neurosurg Psychiatry. 2011;82(8):942–943. DOI:10.1136/jnnp.2008.155242
   PubMed Web of Science ®Google Scholar
• Terasawa Y, Fujita K, Izumi Y, et al. Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset. J Neurol Sci. 2012;319(1–2):130–132. DOI:10.1016/j.jns.2012.04.004
   PubMed Web of Science ®Google Scholar
• Zanusso G, Camporese G, Ferrari S, et al. Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease. Ann Neurol. 2016;80(4):629–632. DOI:10.1002/ana.24757
   PubMed Web of Science ®Google Scholar
• Novi G, Canosa A, Nobili F, et al. Longitudinal brain magnetic resonance imaging and real-time quaking induced conversion analysis in presymptomatic Creutzfeldt-Jakob disease. Eur J Neurol. 2018;25(12):e127–128. DOI:10.1111/ene.13807
   PubMed Web of Science ®Google Scholar
• Maeda K, Sugihara Y, Shiraishi T, et al. Cortical hyperintensity on diffusion-weighted images as the presymptomatic marker of sporadic Creutzfeldt-Jakob disease. Intern Med. 2019;58(5):727–729. DOI:10.2169/internalmedicine.1155-18
   PubMed Web of Science ®Google Scholar
• Koizumi R, Ueda N, Mugita A, et al. Case report: extremely early detection of preclinical magnetic resonance imaging abnormality in Creutzfeldt-Jakob disease with the V180I mutation. Front Neurol. 2021;12:751750.
   PubMed Web of Science ®Google Scholar
• Higuma M, Sanjo N, Satoh K, et al. Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. PLoS ONE. 2013;8(3):e60003. DOI:10.1371/journal.pone.0060003
   PubMed Web of Science ®Google Scholar
• Braak H, Braak E. Neurofibrillary changes confined to the entorhinal region and an abundance of cortical amyloid in cases of presenile and senile dementia. Acta Neuropathol. 1990;80(5):479–486.
   PubMed Web of Science ®Google Scholar
• Echávarri C, Aalten P, Uylings HB, et al. Atrophy in the parahippocampal gyrus as an early biomarker of Alzheimer’s disease. Brain Struct Funct. 2011;215(3–4):265–271. DOI:10.1007/s00429-010-0283-8
   PubMed Web of Science ®Google Scholar
• Matsuda H. Role of neuroimaging in Alzheimer’s disease, with emphasis on brain perfusion SPECT. J Nucl Med. 2007;48(8):1289–1300.
   PubMed Web of Science ®Google Scholar
• Yoshida H, Terada S, Ishizu H, et al. An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. Neuropathology. 2010;30(2):159–164. DOI:10.1111/j.1440-1789.2009.01048.x
   PubMed Web of Science ®Google Scholar
• Hermann P, Appleby B, Brandel JP, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurol. 2021;20(3):235–246. DOI:10.1016/S1474-4422(20)30477-4
   PubMed Web of Science ®Google Scholar
• Kitamoto T, Ohta M, Doh-Ura K, et al. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun. 1993;191(2):709–714. DOI:10.1006/bbrc.1993.1275
   PubMed Web of Science ®Google Scholar
• Satoh K, Tobiume M, Matsui Y, et al. Establishment of a standard 14-3-3 protein assay of cerebrospinal fluid as a diagnostic tool for Creutzfeldt-Jakob disease. Lab Invest. 2010;90(11):1637–1644. DOI:10.1038/labinvest.2009.68
   PubMed Web of Science ®Google Scholar
• Atarashi R, Satoh K, Sano K, et al. Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion. Nat Med. 2011;17(2):175–178. DOI:10.1038/nm.2294
   PubMed Web of Science ®Google Scholar