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Health condition · Clinically reviewed

Creutzfeldt-Jakob disease, a rare, rapidly progressive prion disease of the brain.

Fatal, rare and coordinated through the National CJD Research and Surveillance Unit in Edinburgh. What the four types mean, how it is diagnosed, and how care is organised.

A radiographer guides a patient onto the bed of an advanced 3 Tesla MRI scanner in a London imaging suite

Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a registered UK clinician before publication.

  • 02

    Sourced from guidance

    Checked against NICE, the National CJD Research and Surveillance Unit and peer-reviewed neurology sources.

  • 03

    Current for 2026

    Reflects modern UK surveillance, RT-QuIC CSF testing and pulvinar sign MRI criteria for variant CJD.

Key facts

CJD at a glance.

The essentials, in plain English. What CJD is, the four recognised types, and how UK surveillance works.

  • What it is

    A rare, fatal, rapidly progressive prion disease of the brain caused by misfolded PrP protein accumulating in neural tissue.

  • Sporadic CJD

    About 85 per cent of cases. Spontaneous prion misfolding with median onset in the 60s and median survival of 4 to 6 months.

  • Variant CJD

    Linked to BSE (mad cow) exposure. Younger patients, psychiatric prodrome, longer course. Now declining in the UK.

  • Familial CJD

    Around 10 to 15 per cent. Autosomal dominant PRNP mutations. Includes GSS and Fatal Familial Insomnia.

  • Iatrogenic CJD

    Historical cases from cadaveric pituitary hormone, dural grafts, corneal grafts and contaminated neurosurgical instruments.

  • UK surveillance

    All suspected cases must be notified to the National CJD Research and Surveillance Unit (NCJDRSU) in Edinburgh.

Why this guide matters

A rare disease, a coordinated response.

CJD is uncommon but distinctive. Recognising the pattern early opens the door to specialist care, family support and mandatory NCJDRSU surveillance.

  • The pattern is distinctive

    Rapidly progressive dementia with myoclonus, ataxia and visual or psychiatric change over weeks to months is uncommon and should always be investigated.

  • Modern testing is powerful

    CSF RT-QuIC, DWI MRI and PRNP genetics have transformed diagnosis. Brain biopsy is rarely needed.

  • Care is palliative but purposeful

    There is no cure, but early neurology, palliative care and the NCJDRSU together provide dignified, coordinated, family-centred care.

How the diagnosis is made

From suspicion to a confirmed prion diagnosis.

The steps a UK neurology team follows, in order, so families know what to expect and why each investigation matters.

  1. 01

    Assessing

    Clinical suspicion

    Rapidly progressive dementia with myoclonus, ataxia or visual disturbance in weeks to months should raise prion disease as a possibility.

  2. 02

    Assessing

    Neurological examination

    A structured look at cognition, cerebellar signs, myoclonus, pyramidal and extrapyramidal features and visual fields.

  3. 03

    Assessing

    Exclude reversible causes

    Autoimmune encephalitis, thyroid disease, B12 deficiency, HIV, syphilis and paraneoplastic syndromes need to be ruled out first.

  4. 04

    Confirming

    MRI brain

    DWI and FLAIR show cortical ribboning and basal ganglia hyperintensity. The pulvinar sign is highly suggestive of variant CJD.

  5. 05

    Confirming

    EEG and CSF

    Periodic sharp wave complexes on EEG plus CSF 14-3-3, tau and RT-QuIC. RT-QuIC is now highly sensitive and specific for prion disease.

  6. 06

    Surveillance

    Genetic PRNP testing

    Sequencing the PRNP gene identifies familial cases and informs genetic counselling for at-risk relatives.

  7. 07

    Surveillance

    NCJDRSU notification

    Mandatory referral to the National CJD Research and Surveillance Unit in Edinburgh, led by Prof Colin Smith, for review and surveillance.

Typical timeline: from clinical suspicion to a confirmed diagnosis within days to a few weeks.

Symptoms

What CJD actually looks like.

A distinctive constellation of rapidly progressive dementia, myoclonus, ataxia and visual or psychiatric change, ending in akinetic mutism.

  • Rapidly progressive dementia

    Cognitive decline over weeks to months, far faster than Alzheimer's disease or typical dementia.

  • Myoclonus

    Sudden involuntary jerks, often startle-induced. A near-universal feature as the illness progresses.

  • Cerebellar ataxia

    Unsteady gait, limb incoordination and slurred speech reflecting cerebellar involvement.

  • Visual disturbance

    Cortical blindness, visual agnosia or hallucinations, particularly in the Heidenhain variant of sporadic CJD.

  • Psychiatric prodrome

    Depression, anxiety, withdrawal and personality change. Prominent and early in variant CJD.

  • Pyramidal and extrapyramidal signs

    Spasticity, hyperreflexia, rigidity, bradykinesia and dystonia appear as the disease advances.

  • Sleep disturbance

    Insomnia, disrupted sleep architecture and dysautonomia. Central to Fatal Familial Insomnia.

  • Akinetic mutism

    A terminal state of profound immobility and mutism, usually in the final weeks of life.

Treatment

How CJD is managed in the UK.

There is no cure. Care is palliative and supportive, led by neurology with early hospice input, tight symptom control and coordinated family support.

  • Specialist neurology input

    Coordinated care through a neurologist familiar with prion disease and the NCJDRSU, with early involvement of palliative teams.

  • Palliative and supportive care

    Symptom-led care focused on comfort, dignity and family support. Hospice input is offered early rather than as a last resort.

  • Benzodiazepines for myoclonus

    Clonazepam and other benzodiazepines can reduce disabling myoclonic jerks and improve comfort.

  • Antipsychotics for agitation

    Low-dose antipsychotics may help distressing agitation, hallucinations or severe psychiatric symptoms.

  • Antidepressants and anxiolytics

    Used pragmatically for prominent mood and anxiety symptoms, especially in the variant CJD prodrome.

  • Feeding and swallowing support

    Speech and language therapy, modified diets and, where appropriate, decisions about enteral feeding within a palliative frame.

  • Infection control precautions

    Prion-specific decontamination of neurosurgical instruments and standard precautions for tissue and CSF handling.

  • Genetic counselling

    For familial CJD, GSS and Fatal Familial Insomnia, offered to patients and at-risk relatives through a clinical genetics service.

What this guide is based on

The sources behind every claim on this page.

UK national surveillance and international guidance, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your neurology team and the NCJDRSU know your history and will tell you which parts apply. If in doubt, get seen.

  • National CJD Research and Surveillance Unit (NCJDRSU), University of Edinburgh. UK CJD surveillance data and diagnostic criteria.

  • NICE. Suspected neurological conditions: recognition and referral (NG127).

  • World Health Organization. Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies.

  • Department of Health and Social Care. Transmissible spongiform encephalopathy agents: safe working and the prevention of infection.

Red flags

When to think of CJD.

Situations that should raise prion disease as a possibility and trigger urgent neurology and NCJDRSU involvement.

  • Rapidly progressive dementia

    Cognitive decline over weeks to months, especially with myoclonus or ataxia, warrants urgent neurology assessment.

  • Unexplained neurological decline

    New myoclonus, cerebellar signs or visual disturbance in a patient with cognitive change is a red flag for prion disease.

  • Family history of prion disease

    A first-degree relative with CJD, GSS or Fatal Familial Insomnia warrants clinical genetics referral and PRNP testing.

  • Exposure history

    Previous neurosurgery, dural or corneal graft, cadaveric pituitary hormone or prolonged UK residence during the BSE era should be documented.

  • Psychiatric prodrome in a young adult

    Sensory symptoms, depression and personality change in someone under 50 who later develops neurology should prompt vCJD consideration.

  • Post-mortem consent conversation

    Brain donation to the NCJDRSU is invaluable for diagnosis, surveillance and research and is discussed sensitively with families.

  • Neurosurgical instrument alert

    If prion disease is suspected before neurosurgery or invasive brain procedures, instruments must be quarantined or destroyed per Department of Health guidance.

  • Blood and tissue donation

    Confirmed or suspected CJD is an absolute exclusion from blood, tissue and organ donation in the UK.

  • Occupational exposure

    Needlestick or mucosal exposure to CJD tissue requires urgent occupational health review and NCJDRSU advice.

Living with it

A short, hard illness, held by a wider team.

Families navigating CJD need practical, emotional and specialist support. Four things that make the biggest difference day to day.

A quiet reminder

You do not have to do this alone.

The CJD Support Network, Alzheimer's Society, hospice and community teams are there for the whole family, from diagnosis onward.

  1. 01 Support

    Lean on the CJD Support Network

    The CJD Support Network offers information, family advocacy and peer support for patients and relatives through every stage of the illness.

  2. 02 Planning

    Advance care planning early

    Prognosis is short. Early discussions about wishes, ceiling of care and preferred place of death protect what matters to the person.

  3. 03 Family

    Genetic counselling for relatives

    For familial forms, clinical genetics services offer counselling, predictive testing and reproductive planning for at-risk relatives.

  4. 04 Team

    Coordinated multidisciplinary care

    Neurology, palliative care, community nursing, the GP, the Alzheimer's Society and hospice all have a role. One key worker keeps it joined up.

Frequently asked

Everything we get asked about CJD.

Quick answers on types, diagnosis, treatment, inheritance and prognosis.

  • What is Creutzfeldt-Jakob disease?

    CJD is a rare, fatal, rapidly progressive neurodegenerative disease caused by misfolded prion proteins accumulating in the brain. It presents with rapidly progressive dementia, myoclonus, ataxia and visual or psychiatric disturbance, and there is no cure. UK surveillance is coordinated by the National CJD Research and Surveillance Unit in Edinburgh.

  • What are the different types of CJD?

    There are four main forms. Sporadic CJD is the commonest (about 85 per cent) and arises from spontaneous prion misfolding. Variant CJD is linked to BSE exposure and now rare in the UK. Familial CJD (10 to 15 per cent) is inherited via PRNP mutations and includes Gerstmann-Straussler-Scheinker syndrome and Fatal Familial Insomnia. Iatrogenic CJD is historical, from contaminated pituitary hormone, dural or corneal grafts and neurosurgical instruments.

  • How is CJD diagnosed?

    Diagnosis combines clinical features, MRI brain (cortical ribboning, basal ganglia hyperintensity and the pulvinar sign in vCJD), EEG (periodic sharp wave complexes) and CSF analysis (14-3-3, tau and RT-QuIC). RT-QuIC is highly sensitive and specific for prion disease. Genetic PRNP testing identifies familial cases. All suspected cases in the UK must be notified to the NCJDRSU.

  • Is there a treatment or cure for CJD?

    No. There is no cure and no treatment that alters the course of the disease. Care is palliative and supportive, with benzodiazepines such as clonazepam for myoclonus, antipsychotics for agitation, and hospice and multidisciplinary support for patients and families. Specialist neurology and palliative care involvement are offered early.

  • Is CJD hereditary or contagious?

    Familial CJD (about 10 to 15 per cent of cases) is inherited in an autosomal dominant pattern via PRNP mutations. Sporadic CJD is not inherited. CJD is not contagious by normal social contact, coughing or sharing living space. It can, rarely, be transmitted through contaminated neurosurgical instruments, cadaveric tissue grafts or, historically, human-derived pituitary hormone. Blood and tissue donation are excluded.

  • What is the prognosis for someone with CJD?

    Sporadic CJD has a median survival of 4 to 6 months from symptom onset, with over 90 per cent of patients dying within a year. Variant CJD tends to have a longer course, typically 12 to 14 months. Familial forms vary. Care focuses on comfort, dignity, family support and coordinated multidisciplinary and palliative input.

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