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Volume 21, Number 5—May 2015
CME ACTIVITY - Perspective

Recent US Case of Variant Creutzfeldt-Jakob Disease—Global Implications

Atul MaheshwariComments to Author , Michael Fischer, Pierluigi Gambetti, Alicia Parker, Aarthi Ram, Claudio Soto, Luis Concha-Marambio, Yvonne Cohen, Ermias D. Belay, Ryan A. Maddox, Simon Mead, Clay Goodman, Joseph S. Kass, Lawrence B. Schonberger, and Haitham M. Hussein
Author affiliations: Baylor College of Medicine, Houston, Texas, USA (A. Maheshwari, A. Parker, A. Ram, C. Goodman, J.S. Kass); Harris Health System, Houston (A. Maheshwari, A. Parker, A. Ram, J.S. Kass); Texas Department of State Health Services, Austin, Texas, USA (M. Fischer); Case Western Reserve University School of Medicine, Cleveland, Ohio, USA (P. Gambetti, Y. Cohen); University of Texas Medical School at Houston, Houston (C. Soto, L. Concha-Marambio); Universidad de los Andes, Santiago, Chile (L. Concha-Marambio); Centers for Disease Control and Prevention, Atlanta, Georgia, USA (E.D. Belay, R.A. Maddox, L.B. Schonberger); University College London Institute of Neurology, London, UK (S. Mead); HealthPartners Clinics & Services, St. Paul, Minnesota, USA (H.M. Hussein)

Main Article

Table 1

Relevant studies for the diagnosis of vCJD, United States*

Test† Result (reference range)
Albumin, g/dL 2.3–4.1 (3.4–5.0)
Ammonia, μmol/L 31 (11–32)
Anti-thyroglobulin antibody, IU/mL <1.0 (0.0–0.9)
Anti-thyroid peroxidase antibodies, IU/mL 5 (0–34)
Ceruloplasmin, mg/dL 32.5 (20.0–60.0)
Creatine kinase, U/L 39–257 (0.6–1.3)
C-reactive protein, mg/dL 0.098 (0.0–0.3)
Erythrocyte sedimentation rate, mm/h 7 (0–15)
Ethanol level, g/dL Undetectable (0.0–0.08)
Hemoglobin A1c, % 5.0 (4.3–6.1)
Protein, g/dL 5.1–7.8 (6.4–8.2)
Rapid plasma reagin Nonreactive
Toxoplasma IgG, IU/mL; IgM, AU/mL <3.0, <3.0 (<5.9, <7.9)
Thyroid stimulating hormone, U/mL 1.78 (0.36–3.74)
Vitamin B1, nmol/L 254.5 (66.5–200.0)
Vitamin B12, pg/mL
597–926 (211–911)
Cerebrospinal fluid§
Electrophoresis No oligoclonal bands
Glucose, mg/dL 46–53 (50–80)
Protein, mg/dL 90.0–204.2 (15–45)
Erythrocytes, cells/μL 1–2 (0)
Leukocytes, cells/μL 1–3 (0–5)
Angiotensin converting enzyme, U/L 1.5 (0.0–2.5)
Epstein-Barr virus PCR Not detected
Herpes simplex viruses 1 and 2 Not detected
VDRL Nonreactive
Stain No organisms found
No growth
Other diagnostic tests
Electroencephalography x3 Mild to moderate diffuse slowing; no epileptiform activity
MRI brain 14 mo after initial symptoms: bilateral T2 hyperintensities in the thalamic pulvinar nuclei and, to a lesser extent, in the caudate and lentiform nuclei. Subtle cortical ribbon sign over the right motor cortex
At 15 mo: persistent pulvinar and cortical ribbon sign; resolution of caudate and lentiform nuclei T2 hyperintensities
At 16 mo: persistent pulvinar and cortical ribbon sign, with interval development of subtle T1 hyperintensities
MRI, C/T/L-spine Cervical and lumbar spondylosis; no cord compression
CT angiogram head and neck No intracranial vascular abnormalities; mild large vessel atherosclerotic disease without significant stenosis
CT chest/abdomen/ pelvis; scrotal ultrasound:
No malignancy detected
CJD-specific laboratory tests
PRNP genotype Codon 129 methionine homozygous; otherwise no mutations
Direct detection assay Negative
Urine PMCA Positive for scrapie prion protein
Cerebrospinal fluid
14-3-3 protein Negative
Tau protein, pg/mL 358, negative
RT-QuIC Negative

*Includes tests that rule out vCJD mimics. Routine serum electrolytes and cell counts were otherwise normal. CJD, Creutzfeldt-Jakob disease; CT, computed tomography; MRI, magnetic resonance imaging; PMCA, protein misfolding cyclic amplification; RT-QuIC, real-time quaking-induced conversion; vCJD, variant CJD; VDRL, Venereal Disease Research Laboratory.
†Urinalyses were negative for heavy metals, drug toxicity, and copper.
‡Blood tests for antinuclear antibody, antineuronal nuclear antibody (ANNA1, Anti-Hu antibody), anti-Purkinje cell antibody (anti-Yo antibody), anti-smooth muscle/ribonucleoproteins; anti-Sjögren’s-syndrome-related antigen A, and anti-Sjögren’s-syndrome-related antigen B, Aspergillus antibody, Blastomyces antibody, Coccidiodes antibody, hepatitis panel, HIV-1/HIV-2, and Borrelia burgdorferi PCR were all negative.
§Negative for cryptococcal antigen; IgM against West Nile virus, St. Louis encephalitis virus, California encephalitis virus, eastern equine encephalitis, western equine encephalitis virus, and West Nile virus; fluorescent treponemal antibody; and autoimmune/paraneoplastic panel (Dalmau).

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Page created: April 19, 2015
Page updated: April 19, 2015
Page reviewed: April 19, 2015
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