Creutzfeldt-Jakob Disease Atif Chohan & Alex Brown

What is CJD? Degenerative brain disorder Uncommon, usually fatal Appears in older people, short duration First described in 1920 – Hans Gerhard Creutzfeld/Alfons Maria Jakob

3 Categories of CJD Sporadic CJD (85%) – Individual has no known risk factors Hereditary CJD (10-15%) – Family history – positive for genetic mutation Acquired CJD (<1%) – Exposure to brain/nervous system tissue – Usually medical procedures (iatrogenic)

Signs & Symptoms Dementia Muscular coordination, personality changes, vision Myoclonus, blindness Enter coma, often contract infection Early stage similar to Alzheimer’s/Huntington’s “Human form of Mad Cow disease”

Causes of CJD Prions – Proteins, 2 forms – normal/infectious – Same amino acid sequence, folded differently – Infectious prions aggregate – Can be transmitted to offspring Unusual ‘slow virus’ – No virus ever isolated

Prions Prions invade brain

Nerve cell death (causes symptoms) Tiny holes in tissue – ‘spongiform’

Transmission of CJD Contaminated harvested human brain products Inherited Human Growth Hormone Cannibalism Blood, plasma? Not transmitted by air/contact

Epidemiology Very rare – 1 in a million per year Mostly years (except variant CJD) 90% fatality rate within 1 year In United Kingdom: – 1860 confirmed deaths since 1990 (1454 sporadic) – 68 deaths in 2013 so far (4 th Nov) – Zero confirmed cases still alive

References   jakob_disease/stats.htm  80%93Jakob_disease  _cjd.htm