Jakob-Creutzfeldt Disease: A Rare and Fatal Neurological Disorder

Introduction

Jakob-Creutzfeldt disease (JCD) is a rare and fatal neurodegenerative disorder that affects the brain. It is characterized by rapidly progressive dementia, muscle spasms, and other neurological symptoms. JCD is caused by the accumulation of a misfolded protein called prion in the brain. Prions are infectious proteins that can spread from person to person through contact with infected tissue.

Symptoms of Jakob-Creutzfeldt Disease

The symptoms of JCD typically develop over a period of weeks or months. The initial symptoms often include:

• Memory loss
• Difficulty thinking
• Changes in personality
• Unsteadiness and difficulty walking

As the disease progresses, the symptoms become more severe and may include:

• Hallucinations
• Delusions
• Seizures
• Coma

Causes of Jakob-Creutzfeldt Disease

JCD is caused by the accumulation of a misfolded protein called prion in the brain. Prions are infectious proteins that can spread from person to person through contact with infected tissue. There are several different types of JCD, each with its own cause:

• Sporadic JCD is the most common type of JCD. It occurs in people with no known risk factors.
• Inherited JCD is caused by a mutation in the PRNP gene. This gene codes for the prion protein.
• Acquired JCD is caused by exposure to prions from an infected source. This can occur through:
  • Blood transfusions
  • Organ transplants
  • Exposure to infected surgical instruments

Diagnosis of Jakob-Creutzfeldt Disease

JCD is diagnosed based on the patient’s symptoms and a physical examination. The doctor may also order tests to rule out other conditions, such as:

• MRI scan
• EEG
• Spinal tap

A definitive diagnosis of JCD can only be made by examining brain tissue after death.

Treatment of Jakob-Creutzfeldt Disease

There is no cure for JCD. Treatment is focused on relieving the symptoms and making the patient comfortable. Treatment may include:

• Medications to manage seizures and hallucinations
• Physical therapy to help with mobility
• Speech therapy to help with communication

Prognosis of Jakob-Creutzfeldt Disease

JCD is a rapidly progressive disease. Most people die within a year of diagnosis. There is no known cure for JCD.

Prevention of Jakob-Creutzfeldt Disease

There is no way to prevent sporadic JCD. However, there are some things you can do to reduce your risk of acquiring inherited JCD:

• Get tested for the PRNP gene mutation if you have a family history of JCD.
• Avoid blood transfusions and organ transplants from people who have JCD.
• Avoid exposure to infected surgical instruments.

Outlook for Jakob-Creutzfeldt Disease

JCD is a rare and fatal disease. There is no cure for JCD. Treatment is focused on relieving the symptoms and making the patient comfortable. Most people die within a year of diagnosis.

Additional Information

If you have any questions about JCD, please talk to your doctor. You can also find more information about JCD from the following resources:

• National Institute of Neurological Disorders and Stroke
• Alzheimer’s Association
• Prion Alliance