April 2019 By PsychDB.com

Creutzfeldt-Jakob Disease (CJD)

Creutzfeldt-Jakob Disease (CJD) is a rare, fatal, progressive neurodegenerative disorder. It affects about 1 in every million people per year worldwide. CJD has a rapid course and usually appears in late life. There is a very short survival rate.

Incidence

There approximately 1 or 2 cases per million people. The peak age for the sporadic CJD is 67 years.

Major or mild neurocognitive disorder (NCD) due to prion disease includes the group of subacute spongiform encephalopathies including Creutzfeldt-Jakob disease, variant Creutzfeldt-Jakob disease, kuru, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia.

Criterion A

The criteria are met for major or mild neurocognitive disorder.

Criterion B

There is insidious onset, and rapid progression of impairment is common.

Criterion C

There are motor features of prion disease, such as myoclonus or ataxia, or biomarker evidence.

Criterion D

The neurocognitive disorder is not attributable to another medical condition and is not better expiated by another mental disorder.

Typically, individuals with CJD present with neurocognitive deficits, ataxia, and abnormal movements such as myoclonus, chorea, or dystonia; a startle reflex is also common.

Creutzfeldt-Jakob Disease is caused by transmissible agents known as prions. The most common type is sporadic Creutzfeldt-Jakob disease, typically referred to as Creutzfeldt-Jakob disease (CJD). Variant CJD is much rarer and is associated with transmission of bovine spongiform encephalopathy, also called “mad cow disease.” There is a genetic component in up to 15% of cases, associated with an autosomal dominant mutation.

Prion disease is diagnosed with least one of the characteristic biomarker features: cortical ribboning or lesions on magnetic resonance imaging with DWI (diffusion-weighted imaging)[1] or FLAIR (fluid-attenuated inversion recovery), tau or 14-3-3 protein in cerebrospinal fluid, characteristic triphasic waves on electroencephalogram, or, for rare familial forms, family history or genetic testing.