Prion Disease

Mohd Tanweer Baksh

Gulf Medical University

Prion Disease

(CDC)

Prion diseases or transmissible spongiform

encephalopathies (TSEs) are a family of rare
progressive neurodegenerative disorders.

Affects both humans and animals.

Prion diseases are caused by the conversion of a

normal (predominantly -helical) protein termed prion
protein (PrPc) to a -pleated form (PrPsc)

Prion proteins that are found most abundantly in the

brain.

The abnormal folding of the prion proteins leads to

brain damage.

Prion Disease

(CDC)

Human Prion Diseases

Animal Prion Diseases

Creutzfeldt-Jakob Disease
(CJD)

Bovine Spongiform
Encephalopathy (BSE)

Variant Creutzfeldt-Jakob
Disease (vCJD)

Chronic Wasting Disease

(CWD)

Gerstmann-StrausslerScheinker Syndrome

Scrapie

Kuru

Creutzfeldt-Jakob Disease (CJD)

Classic

CJD is a human prion disease.

It

is a neurodegenerative disorder with characteristic

clinical and diagnostic features. This disease is rapidly
progressive and always fatal.

Creutzfeldt-Jakob

disease (CJD) is a rapidly progressive,

invariably fatal neurodegenerative disorder caused by
prion protein.

The

vast majority of CJD patients usually die within 1

year of illness onset.

85%

sporadic disease &. 5 to 15% develop CJD because

of inherited mutations of the prion protein gene.

Physicians suspect a diagnosis of CJD on the basis of

the typical signs and symptoms and progression of
the disease.

In most CJD patients, the presence of 14-3-3 protein

in the cerebrospinal fluid and/or a typical
electroencephalogram (EEG) pattern, both of which
are believed to be diagnostic for CJD, have been
reported.

Aconfirmatory diagnosis of CJD requires

neuropathologic and/or immunodiagnostic testing of
brain tissue obtained either at biopsy or autopsy.

CDC's Diagnostic Criteria for CreutzfeldtJakob Disease (CJD), 2010

1. Sporadic CJD:
Definite,
Possible
Probable

2. Iatrogenic CJD
3. Familial CJD

CDC's Diagnostic Criteria for CreutzfeldtJakob Disease (CJD), 2010

1. Sporadic CJD
Definite:
Diagnosed by standard neuropathological techniques; and/or immunocytochemically;
and/or Western blot confirmed protease-resistant PrP; and /or presence of scrapieassociated fibrils.
Probable:
Rapidly progressive dementia;andat least two out of the following four clinical
features:

Myoclonus

Visual or cerebellar signs

Pyramidal/extrapyramidal signs

Akinetic mutism

ANDa positive result on at least one of the following laboratory tests:

a typical EEG (periodic sharp wave complexes) during an illness of any duration;
and/or

a positive 14-3-3 cerebrospinal fluid (CSF) assay in patients with a disease duration
of less than 2 years

Possible:
Progressive dementia;andat least two out of the following four clinical
features:

Myoclonus

Visual or cerebellar signs

Pyramidal/extrapyramidal signs

Akinetic mutism

ANDthe absence of a positive result for any of the three laboratory

tests that would classify a case as probable (see tests a-c above)
ANDduration of illness less than two years
ANDwithout routine investigations indicating an alternative diagnosis.