Disease Surveillance in New Jersey Spring 2006

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1 Creutzfeldt-Jakob Disease Surveillance in New Jersey Spring 2006 Shereen Brynildsen, MS Epidemiologist, Infectious & Zoonotic Disease Program New Jersey Department of Health & Senior Services Phone: Prion disease CJD types Case definition CJD in New Jersey Case investigation Resources Overview 1

2 Incidence of BSE in Cattle and vcjd in Humans U.K., Rare Prion Disease CJD 1 case per 1 million population / year Infectious, inherited or sporadic Neurodegenerative Long incubation period Rapid progression Invariably fatal Distinct autopsy pattern 2

3 Transmissible Spongiform Encephalopathies (TSEs) Animal TSEs Scrapie Bovine spongiform encephalopathy (BSE) Chronic wasting disease (CWD) Transmissible mink encephalopathy Feline spongiform encephalopathy Human TSEs German-Straussler Straussler-ScheinkerScheinker syndrome (GSS ) Fatal familial insomia (FFI) Kuru Creutzfeldt-Jakob disease (CJD) What exactly is in a prion? Proteins essential to life; protein molecule denoted PrP After forming in living cell, protein molecule folds into curl Curl is flexible, can take on many shapes 2 potential forms: normal and abnormal Normal form Exists in human brain, other mammals and birds Function is unknown Abnormal form Forms tiny fibers that clump together to form chemical structure called amyloid Amyloid deposit = plaques Plaques corrupt normal molecules to destroy brain 3

4 Creutzfeldt-Jakob Disease Four types Sporadic or classic CJD (85%) Inherited or familial CJD (10-15%) 15%) Iatrogenic CJD (<1%) Infectious Contaminated tissue or neurosurgical instruments New variant CJD (<1%) Infectious Consumption of contaminated tissue Sporadic CJD First recognized in 1920s, although prion agent not identified until 1982 Average age of onset: 68 yrs Rapid progression of symptoms Dementia Lack of coordination (cerebellar( ataxia) Sudden, jerky movements (myoclonus( myoclonus) Akinetic mutism Duration of illness: months No history of exposure to contaminated neurosurgical equipment, contaminated beef 4

5 Familial CJD Inherited mutation is PrP gene Inherited in autosomal dominant pattern Average age of onset: 52 yrs Symptoms depend on mutation, but usually similar to sporadic CJD Duration of illness: months Iatrogenic CJD Not age-dependent Very long incubation (~30 years in some cases) How? Prion survives normal disinfection procedure Intracerebral transmission (direct contamination of brain tissue) 1974: corneal transplants 1977: neurosurgical equipment 1987: dura mater grafts Peripheral transmission (indirect contamination of brain tissue) 1985: cadaver-derived derived human growth hormone 5

6 New variant CJD (vcjd( vcjd) Average age of onset: 27 yrs 1995 two teenagers in UK By 1996, number increased to ten cases Psychiatric signs at presentation,, followed by: Ataxia, myoclonus Anxiety, depression, withdrawal Persistent pain / odd sensations in limbs Duration of illness: months Exposure to BSE Clinical history Chronology of symptoms Risk factors Laboratory tests EEG CSF Diagnostic Aids Periodic sharp wave pattern (~80%) Burst wave suppression (suggestive) Presence of protein (>90%) Positive, negative, ambiguous / equivocal False positive 5-10% 5 MRI Brain biopsy Post-mortem exam (brain) Must be done 24 hours 48 hours after death 6

7 National Prion Disease Pathology Surveillance Center (NPDPSC) Established in 1997 in the Division of Neuropathology at Case Western University Only U.S. laboratory that offers CJD testing Research supported by CDC and NIH Will coordinate post-mortem exam free of charge Autopsy Coordinator Results sent to physician, state health department and CDC NJ DHSS Case Definition (based on World Health Organization) Confirmed Clinically compatible supported by neuropathological findings from: Brain biopsy Autopsy Probable Clinically compatible supported by results of: EEG CSF MRI Possible Clinically compatible not supported by any laboratory results 7

8 Frequency of Cases Confirmed Cases of CJD New Jersey total=7 6 total=8 5 total=3 4 total=5 total= Male Female Year of Report Mad Cow in New Jersey? Garden State Racetrack link reported by NJ resident in June 2003 NJ DHSS investigation Initial report = 17 suspect cases from past 9 years and spanning 6 states Only 11/17 cases met WHO criteria for CJD 5/11 cases had neuropathologic analysis 3 were familial CJD, 2 were sporadic CJD 6/11 did not have post-mortem exam: progression of symptoms, EEG, MRI and medical history showed sporadic CJD CJD observed rate matched expected rate 8

9 How to Investigate If initially reported to local health: Enter case into CDRSS Get clinical symptoms / exposure history If clinically compatible: Suggest CSF (EEG, MRI) test Suggest autopsy and provide resources NPDPSC for clinicians CJD Foundation for family When CSF results from NPDPSC sent directly to NJDHSS: Case will be entered at state and appear on CDRSS Get clinical symptoms / exposure history If clinically compatible: Repeat CSF (if first result negative or ambiguous) Suggest autopsy and provide resources When post-mortem results from NPDPSC sent directly to NJDHSS: Get clinical symptoms / exposure history Special Considerations If person is < 55 years CDS-8 Given rapid progression of illness, timely case investigation is important! Infection control Highest concentration in CNS (brain, spinal cord, eye) Low infectivity in blood / CSF No infectivity in bodily secretions Hospital Should have written policy Example: high infectivity product = single use equipment Example: infectivity stabilized by drying and/or fixation Example: quarantine instruments until results Example: two or more methods (boil and autoclave) Funeral Home New Jersey Funeral Directors Association Additional surveillance of secondary databases UB 92 Multiple Cause of Death Files 9

10 CJD Resources NJ DHSS manual / fact sheet National Prion Disease Pathology Surveillance Center (NPDPSC) General phone The CJD Foundation CJD Helpline The World Health Organization (WHO) Infection Control Guidelines National Institute of Neurological Disorders and Stroke 10

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