Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

被引：205

作者：

Hermann, Peter ^{[1
]}

Appleby, Brian ^{[2
,3
,4
,5
]}

Brandel, Jean-Philippe ^{[6
,7
]}

Caughey, Byron ^{[8
]}

Collins, Steven ^{[9
,10
]}

Geschwind, Michael D. ^{[11
]}

Green, Alison ^{[12
]}

Haik, Stephane ^{[6
,7
]}

Kovacs, Gabor G. ^{[13
,14
,15
]}

Ladogana, Anna ^{[16
]}

Llorens, Franc ^{[1
,17
,18
]}

Mead, Simon ^{[19
,20
]}

Nishida, Noriyuki ^{[21
]}

Pal, Suvankar ^{[12
]}

Parchi, Piero ^{[23
,24
]}

Pocchiari, Maurizio ^{[16
]}

Satoh, Katsuya ^{[22
]}

Zanusso, Gianluigi ^{[25
]}

Zerr, Inga ^{[1
,26
]}

机构：

[1] Univ Med Ctr Gottingen, Natl Reference Ctr Transmissible Spongiform Encep, Dept Neurol, D-37075 Gottingen, Germany

[2] Case Western Reserve Univ, Natl Prion Dis Pathol Surveillance Ctr, Cleveland, OH 44106 USA

[3] Case Western Reserve Univ, Univ Hosp Cleveland, Med Ctr, Dept Neurol, Cleveland, OH 44106 USA

[4] Case Western Reserve Univ, Univ Hosp Cleveland, Med Ctr, Dept Psychiat, Cleveland, OH 44106 USA

[5] Case Western Reserve Univ, Univ Hosp Cleveland, Med Ctr, Dept Pathol, Cleveland, OH 44106 USA

[6] Grp Hosp Pitie Salpetriere, Cellule Natl Riference Malad Creutzfeldt Jakob, Paris, France

[7] Sorbonne Univ, Inst Cerveau & Moelle Epiniere, Paris, France

[8] NIAID, Lab Persistent Viral Dis, Rocky Mt Labs, NIH, Hamilton, MT USA

[9] Univ Melbourne, Australian Natl Creutzfeldt Jakob Dis Registry, Florey Inst Neurosci & Mental Hlth, Parkville, Vic, Australia

[10] Univ Melbourne, Dept Med, Parkville, Vic, Australia

[11] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[12] Univ Edinburgh, Natl CJD Res & Surveillance Unit, Ctr Clin Brain Sci, Edinburgh, Midlothian, Scotland

[13] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[14] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

[15] Univ Hlth Network, Lab Med Program, Toronto, ON, Canada

[16] Ist Super San, Dept Neurosci, Rome, Italy

[17] Inst Carlos III, Ctr Biomed Res Neurodegenerat Dis, Barcelona, Spain

[18] Bellvitge Biomed Res Inst, Barcelona, Spain

[19] Univ Coll London Hosp NHS Fdn Trust, Natl Prion Clin, London, England

[20] UCL, Inst Prion Dis, Med Res Council Prion Unit, London, England

[21] Nagasaki Univ, Grad Sch Biomed Sci, Dept Mol Microbiol & Immunol, Nagasaki, Japan

[22] Nagasaki Univ, Grad Sch Biomed Sci, Dept Locomot Rehabil Sci, Nagasaki, Japan

[23] Ist Sci Neurol Bologna, Ist Ricovero & Cora & Carattere Sci, Bologna, Italy

[24] Univ Bologna, Dept Expt Diagnost & Specialty Med, Bologna, Italy

[25] Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy

[26] German Ctr Neurodegenerat Dis, Gottingen, Germany

来源：

LANCET NEUROLOGY | 2021年 / 20卷 / 03期

基金：

美国国家卫生研究院; 澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;

关键词：

QUAKING-INDUCED CONVERSION; CEREBROSPINAL-FLUID BIOMARKER; HUMAN PRION DETECTION; DIFFERENTIAL-DIAGNOSIS; 14-3-3; PROTEIN; ALPHA-SYNUCLEIN; MRI FINDINGS; CSF; TAU; ACCURACY;

D O I：

10.1016/S1474-4422(20)30477-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrPSc). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, could aid the diagnostic process. However, discordant studies have led to controversies about the clinical value of some established surrogate biomarkers. Development and clinical application of disease-specific protein aggregation and amplification assays, such as real-time quaking induced conversion (RT-QuIC), have constituted major breakthroughs for the confident pre-mortem diagnosis of sporadic Creutzfeldt-Jakob disease. Updated criteria for the diagnosis of sporadic Creutzfeldt-Jakob disease, including application of RT-QuIC, should improve early clinical confirmation, surveillance, assessment of PrPSc seeding activity in different tissues, and trial monitoring. Moreover, emerging blood-based, prognostic, and potentially pre-symptomatic biomarker candidates are under investigation.

引用

页码：235 / 246

页数：12

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