Synaptic loss plays a major role in Alzheimer’s disease (AD). However so far no neurochemical marker for synaptic loss has been introduced into clinical routine. By mass spectrometry beta-synuclein was […]» Read more
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong […]» Read more
Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease.
To compare the diagnostic accuracy and the prognostic value of blood and cerebrospinal fluid (CSF) tests across prion disease subtypes.We used a single-molecule immunoassay to measure tau and neurofilament light […]» Read more
To clinically diagnose MM2-cortical (MM2C) and MM2-thalamic (MM2T)-type sporadic Creutzfeldt-Jakob disease (sCJD) at early stage with high sensitivity and specificity.We reviewed the results of Creutzfeldt-Jakob disease Surveillance Study in Japan […]» Read more
A new tetra-plex fluorimetric assay for the quantification of cerebrospinal fluid β-amyloid42, total-tau, phospho-tau and α-synuclein in the differential diagnosis of neurodegenerative dementia.
Differential diagnosis of neurodegenerative dementia is currently supported by biomarkers including cerebrospinal fluid (CSF) tests. Among them, CSF total-tau (t-tau), phosphorylated tau (p-tau) and β-amyloid42 (Aβ42) are considered core biomarkers […]» Read more
Familial Creutzfeldt-Jakob disease homozygous to the E200K mutation: clinical characteristics and disease course.
To characterize the demographic, clinical features and disease course of familial Creutzfeldt-Jakob disease (fCJD) patients homozygous to the E200K mutation.The Israeli National CJD Database was screened for patients homozygous to […]» Read more
Cerebrospinal fluid non-phosphorylated tau in the differential diagnosis of Creutzfeldt-Jakob disease: a comparative prospective study with 14-3-3.
Cerebrospinal fluid (CSF) non-phosphorylated tau (non-p-tau) is increased in sporadic Creutzfeldt-Jakob disease (CJD), but its accuracy in the differential diagnosis has not been previously established. Here, we first used a […]» Read more
Abstract: Prion real-time quaking-induced conversion (RT-QuIC) is emerging as the most potent assay for the in vivo diagnosis of Creutzfeldt-Jakob disease (CJD), but its full application, especially as a screening […]» Read more
Abstract: We present two historic cases of severe encephalopathy associated with antithyroid antibodies. The first was published by Lord Brain of Eynsham, and the second was from our department’s archives. […]» Read more