Creutzfeldt–Jakob disease

MRI scan showing typical features of Creutzfeldt–Jakob disease

Creutzfeldt–Jakob disease (CJD) is a rare, degenerative, and invariably fatal brain disorder. It is a type of prion disease, which is caused by misfolded proteins that lead to brain damage. CJD is characterized by rapid mental deterioration, usually within a few months.

Symptoms

The initial symptoms of CJD can include memory problems, behavioral changes, poor coordination, and visual disturbances. As the disease progresses, mental impairment becomes severe, and patients may experience dementia, muscle jerks, blindness, and coma.

Causes

CJD is caused by an abnormal form of a protein called a prion. Prions are infectious agents composed of protein in a misfolded form. Unlike other infectious agents, prions do not contain nucleic acids. The disease can occur in three forms:

• Sporadic CJD: The most common form, occurring without known risk factors.
• Hereditary CJD: Caused by genetic mutations in the PRNP gene.
• Acquired CJD: Results from exposure to infected tissue, usually through medical procedures.

Diagnosis

EEG showing periodic sharp wave complexes typical of CJD

Diagnosing CJD can be challenging due to its similarity to other neurodegenerative disorders. Diagnosis is based on clinical evaluation, electroencephalogram (EEG), magnetic resonance imaging (MRI), and cerebrospinal fluid tests. The presence of 14-3-3 protein in the cerebrospinal fluid is a supportive finding.

Pathophysiology

CJD is characterized by spongiform changes in the brain, where the brain tissue develops holes and takes on a sponge-like appearance. This is due to the accumulation of misfolded prion proteins.

MRI showing prion protein accumulation in CJD

Treatment

There is currently no cure for CJD, and treatment is focused on alleviating symptoms and making the patient as comfortable as possible. Supportive care includes pain management, anticonvulsants for seizures, and sedatives for anxiety.

Prognosis

CJD progresses rapidly, and the prognosis is poor. Most patients die within a year of onset. The rapid progression and lack of effective treatment make CJD a particularly devastating disease.

Prevention

Preventing CJD involves minimizing exposure to prions. This includes strict sterilization procedures in medical settings and avoiding consumption of contaminated meat products.

Diffusion-weighted MRI and FDG-PET imaging in sporadic CJD

Related pages

• Prion disease
• Dementia
• Neurodegenerative disease

Histological image showing spongiform changes in CJD