Creutzfeldt-Jakob disease

Disease Description (Causes and Symptoms)

• Disease name: Creutzfeldt–Jakob disease (Creutzfeldt–Jakob disease, CJD)
• Cause·pathophysiology: Abnormal infectious prion protein (PrP^Sc) structurally transforms normal prion protein (PrP^C), causing it to accumulate and leading to spongiform (sponge-like) degeneration, neuronal loss, and gliosis in areas such as the hippocampus, cortex, and basal ganglia of the brain. Types include sporadic (sCJD, the most common), hereditary (familial, due to PRNP gene mutations), infectious (iatrogenic, caused by transfusion, medical instruments, or contaminated grafts), and variant (vCJD, associated with BSE).
• Main symptoms: Rapidly progressive cognitive impairment (dementia), memory loss, behavioral·psychiatric symptoms (particularly prominent early in vCJD), ataxia (movement disorder, gait ataxia), myoclonic muscle spasms (myoclonus), visual impairment, speech·swallowing disorders, and disorientation. In the terminal stage, it often progresses to akinetic mutism.
• Diagnostic features (clinical·tests): Brain MRI (cortical ribboning or hyperintensity in the basal ganglia), EEG (periodic sharp wave complexes/PSWC), and CSF testing for 14-3-3 protein·total tau and other markers. PrP can be demonstrated by RT‑QuIC (real-time quaking-induced conversion) testing. Definitive diagnosis requires histological confirmation of PrP^Sc through brain biopsy or autopsy.

Treatment Methods

• Definitive treatment: There is currently no curative treatment. No established drugs are available that can slow progression or eliminate the cause.
• Supportive·symptomatic treatment (standard approach):
  • Multidisciplinary management of cognitive·behavioral problems (neurology·psychiatry·rehabilitation·nutrition·hospice).
  • Myoclonic spasms: Attempt to relieve symptoms with anticonvulsant/anti-myoclonic medications such as clonazepam and levetiracetam.
  • Symptom-specific medication treatment and psychosocial support for symptoms such as pain·anxiety·sleep disorders.
  • Nutritional support in cases of dysphagia (consideration of a nasogastric tube·gastrostomy) and prevention of aspiration.
  • Prevention and treatment of complications such as infection·pressure ulcers·thrombosis.
• Procedures/surgery: There is no specific surgical treatment. Brain biopsy is limited when performed for diagnostic purposes and is used for definitive confirmation.
• Infection control: Prions are difficult to eliminate through standard sterilization — follow prion removal guidelines when reprocessing medical instruments (including treatment with strong alkali or high-concentration sodium hypochlorite, and specific autoclave conditions).
• Clinical research·clinical trials: Because some drugs·treatments are under investigation, participation in clinical trials may be considered at specialized centers.

Checkpoints Before an Outpatient Visit (Including Preparation Materials and Example Questions)

• Preparation materials:
  • A list of medications currently being taken (including prescription·nonprescription drugs and supplements)
  • The time symptoms began·rate of progression (record daily·weekly changes)
  • Specific examples of each symptom (if possible, record videos of memory loss, seizures·clonic contractions)
  • Existing test records (brain MRI, EEG, CSF test, blood test results, etc.)
  • Family history (dementia·abnormal behavior·neurological disease, history of genetic disease)
• Tests commonly performed at an outpatient visit: Neurological examination, basic blood tests, repeat brain MRI, EEG, and, if necessary, guidance on CSF testing (including RT‑QuIC)
• Example checkpoint questions (questions for patients·caregivers to prepare themselves):
  • Please make specific notes about when the symptoms appeared and how they have progressed.
  • Please record the frequency·type of myoclonic seizures (including videos of clonic movements).

Examples of General Questions to Ask the Doctor

• What additional tests are needed to confirm this disease?
• What symptom-relief treatment options are currently available, and what are their expected effects and side effects?
• What is the prognosis (such as the rate of progression and survival period)?
• Do you recommend genetic testing ( PRNP ) regarding family history and the possibility of hereditary disease?
• What lifestyle precautions are needed regarding infection control (during surgery·treatment) or restrictions on blood donation?
• What are the possibility and process of participating in a clinical trial (including an introduction to a research center)?

Examples of Disease-Specific Questions

• No one in our family has a similar medical history. Is genetic ( PRNP ) testing recommended? (Including the possibility·significance of familial disease and genetic counseling)
• How close can RT‑QuIC testing (or CSF 14‑3‑3 or MRI findings) bring us to a “definitive diagnosis”? Is a brain biopsy or autopsy necessary for definitive diagnosis?

Additional Notes (Brief Summary)

• Because the disease progresses rapidly and has a poor prognosis, early diagnosis·supportive treatment·a hospice-oriented approach are important.
• Special infection-control guidelines must be followed when handling medical devices·tissues.
• Genetic counseling and psychological·social support for family members may be necessary.