Nat. Rev. Neurol. doi: /nrneurol

Slides:

Advertisements

Similar presentations

Use of PMCA for Biochemical Diagnosis of Prion Diseases Claudio Soto, PhD Dept of Neurology, University of Texas Medical Branch and Amprion Inc.

Advertisements

Holly Allen CREUTZFELDT-JAKOB DISEASE.  Human equivalent of mad cow disease  Rare, degenerative, fatal disease  Approximately 1 case per million per.

12 August 2003 CJD Update Latest facts, figures & findings Jonathan P Clewley TSE Unit, Virus Reference Division, Centre for Infections 20 May 2005.

Chapter 6 Sec. 1. Microscopic structures Basic unit of life Nucleus contains genetic material Chromosomes (23 pair) DNA (within the chromosome) The ‘active’

Genetic Testing & Gene Therapy 5.3. Genetic Testing & Gene Therapy (5.3)  Genetic tests look for signs of a disease or disorder in DNA taken from an.

Section 3 – The Lymphatic System

Creutzfeldt-Jakob Disease Atif Chohan & Alex Brown.

Table 3 Limb-girdle muscular dystrophy standardized data collection form and HPO mapping Thompson, R. & Straub, V. et al. (2016) Limb-girdle muscular dystrophies.

Martine Bruley Rosset UMR S 938 INSERM Hôpital St Antoine Paris France

Nat. Rev. Neurol. doi: /nrneurol

Nat. Rev. Neurol. doi: /nrneurol

Genetic Testing Result Means. Before Genetic Testing  The result of genetic testing can be life changing.  It is important for patients and their families.

Figure 3 Life expectancy at birth in all countries included

Figure 2 Systemic abnormalities in AD

Nat. Rev. Clin. Oncol. doi: /nrclinonc

Figure 2 The US Centers for Disease Control and

Figure 4 Time course of the development of physiological changes

Figure 1 Carotid artery inflammation detected using 18F-FDG-PET

Nat. Rev. Clin. Oncol. doi: /nrclinonc

Figure 4 Cerebrospinal fluid levels of neurofilament light chain

Nat. Rev. Neurol. doi: /nrneurol

Figure 2 Monoamine synthesis and metabolism in neurons

Nat. Rev. Neurol. doi: /nrneurol

Figure 2 Systemic immune responses to cryptococcal antigen

Nat. Rev. Neurol. doi: /nrneurol

Nat. Rev. Neurol. doi: /nrneurol

Figure 2 ER stress and proteostasis in neurodegenerative diseases

Nat. Rev. Neurol. doi: /nrneurol

Figure 5 Number of AHSCT procedures for

Figure 3 Transcriptome studies performed in the target

Nat. Rev. Neurol. doi: /nrneurol

Figure 1 Physiological metabolism of Aβ in the brain and periphery

Figure 1 Diagnostic tiers of Parkinson disease as single disease

Figure 2 Grey matter atrophy in FTD

Figure 1 Suggested biopsy-avoiding diagnostic pathway for coeliac disease Figure 1 | Suggested biopsy-avoiding diagnostic pathway for coeliac disease.

Figure 1 Associations between baseline cerebrospinal fluid

Figure 3 Translational research projects in LGMD

Figure 1 Allele frequency and effect size for ALS-associated genes

Figure 3 LGI1 and Caspr2 immunohistochemistry on rat brain

Volume 368, Issue 9552, Pages (December 2006)

Figure 1 Principles of therapeutic ultrasound

Figure 2 Endocrine dysfunction in mitochondrial disease and their associated gene defects Figure 2 | Endocrine dysfunction in mitochondrial disease and.

Figure 3 Genetic pleiotropy in ALS

Nat. Rev. Neurol. doi: /nrneurol

Nat. Rev. Neurol. doi: /nrneurol

Nat. Rev. Neurol. doi: /nrneurol

Figure 2 Carotid artery inflammation detected using 68Ga-DOTATATE-PET

Nat. Rev. Neurol. doi: /nrneurol

Figure 6 Combining population-wide and high-risk strategies

Nat. Rev. Neurol. doi: /nrneurol

Figure 2 Logistical requirements for autologous

Nat. Rev. Neurol. doi: /nrneurol

Figure 1 Clinical aspects of LGMD subtypes

Figure 1 Tau PET images in patients with Alzheimer disease

Figure 2 Cellular pathways implicated in CIPN

Fig. 2. RT-QuIC testing of sCJD and vCJD brain and skin samples.

Figure 4 Representative images of skin biopsy sample

Figure 1 Timing of the effects of deep brain stimulation

Figure 3 Detection of JC virus (JCV) genomic DNA in mildly enlarged nuclei of oligodendroglia-like cells Detection of JC virus (JCV) genomic DNA in mildly.

Figure 1 A large number of genes are potentially associated with CIPN

Nat. Rev. Neurol. doi: /nrneurol

Figure 3 Rett syndrome severity and age at diagnosis by mutation type

Nat. Rev. Neurol. doi: /nrneurol

Nat. Rev. Neurol. doi: /nrneurol

Figure 7 VEGF as a mediator of neuroinflammatory disease

Figure 3 Craniospinal irradiation proton therapy for medulloblastoma

Real-time quaking-induced conversion reactions seeded with cerebrospinal fluid from a patient with sporadic Creutzfeldt-Jakob disease (sCJD) (red) and.

IL6 mRNA is not detected in metastatic prostate cancer cells.

Inter-laboratory cohort Prognostication cohort

A, study design for measuring the feasibility, concordance, and accuracy of a plasma-based cfDNA sequencing test compared with biopsy-based sequencing.

Presentation transcript:

Nat. Rev. Neurol. doi:10.1038/nrneurol.2016.65 Figure 1 Tissue and body fluid samples for prion protein detection in patients with CJD Figure 1 | Tissue and body fluid samples for prion protein detection in patients with CJD. Diagnosis of the different forms of Creutzfeldt–Jakob disease (CJD) requires samples from different tissues. In genetic CJD, DNA sequencing of blood samples detects prion protein gene (PRNP) mutations or insertions. In sporadic CJD, CJD-specific misfolded prion protein (PrPCJD) detected in the brain biopsy samples provides a definitive diagnosis of the disease. Real-time quaking-induced conversion (RT-QuIC) assay of the cerebrospinal fluid (CSF) and olfactory mucosa can demonstrate the presence of PrPCJD with a sensitivity and specificity of nearly 100%. In peripheral tissues, PrPCJD has occasionally been detected postmortem in muscle, spleen and lymph nodes by immunoblotting and/or immunohistochemistry. In variant CJD, PrPCJD can be detected in tonsil biopsies by immunoblotting and/or immunohistochemistry, and in blood and urine by ELISA and protein misfolding cyclic amplification (PMCA). Postmortem, PrPCJD has also been detected in muscle and lymporeticular tissues. *PrPCJD detected from postmortem samples by immunohistochemistry and immunoblotting. Zanusso, G. et al. (2016) Advanced tests for early and accurate diagnosis of Creutzfeldt–Jakob disease Nat. Rev. Neurol. doi:10.1038/nrneurol.2016.65