diease

Creutzfeldt Jacob Disease


OVERVIEW OF Creutzfeldt Jacob Disease :

It is a neurological in which the brain cells become inactive and results in dementia and impaired cognitive functions.  It is also known as subacute form spongiform encephalopathy. It results in fatal condition.


EPIDEMIOLOGY :

It accounts for the 60-70 % of the dementia cases and it is uncommon under the age of 45 yrs.


CAUSES :

Age: It usually starts after 65 yrs

Gender: Women get the disease commonly when compared to men

Familial/Genetic: Previous familial history of the disease with parents or siblings may leads to dementia;the gene known as apolipoprotein E(APOE) increases the risk of the disease.

Down’s syndrome: People with this syndrome tens to have creudtzfeldt jacob disease in their 30-40s.

Head Injury  : Some studies suggest that previous history of head injury may be linked with creudtzfeldt jacob diseases disease.

Poor sleep habits

Heart diseases and stroke


PATHOPHYSIOLOGY :

Types of CJD:

  • In sporadic CJD, the disease appears even though the person has no known risk factors for the disease. This is by far the most common type of CJD and accounts for at least 85 percent of cases.
  • In hereditary CJD, the person may have a family history of the disease and test positive for a genetic mutation associated with CJD. About 10 to 15 percent of cases of CJD in the United States are hereditary.
  • In acquired CJD, the disease is transmitted by exposure to brain or nervous system tissue, usually through certain medical procedures. There is no evidence that CJD is contagious through casual contact with someone who has CJD. Since CJD was first described in 1920, fewer than one percent of cases have been acquired CJD. A type of CJD called variant CJD (or vCJD) can be acquired by eating meat from cattle affected by a disease similar to CJD called bovine spongiform encephalopathy (BSE) or, commonly, “mad cow” disease.
  • It is caused by the abnormal build up of proteins called prions(misfolded proteins) in the brain and also the conformational change of prions in the brains. The buildup of protein called amyloid protein and tau protein leads to the death of the brain cells. Amyloid proteins build up in the surface of the brain forming larger masses of cells called plaques.Twisted protein of another protein which is termed as tau results in tangled structure of protein.These plaque and tangled blocks the synaptic communication between the nerve cells and results is loss of brain function and prevents the brain from carrying out its action.This leads to the programmed cell death in the indivduals with deposition of amyloid fibrils in their brain.The slow and ongoing death of the cells starting in one area of the brain eventually sprading to other areas usually starts in the area which controls the memory and leading to the cause of the Creudtzfeldt jacob disease’s disease.


ROUTES OF TRANSMISSION :

These defective proteins can be transmitted by the contamination of the harvested human brain products such as corneal grafts, dural grafts or electrode or through implants and human growth hormone.

It also can be contacted from the animals by eating the food from animals infected with bovine spongiform encephalopathy (BSE) the bovine form of TSE also known as Mad Cow Disease.

Cannibalism ( eating the same species for food) might also result in development of the disease


COMMON CLINICAL SIGNS AND SYMPTOMS :

Inability to recall the past events

Difficulty to recognize the family members

Difficult in finding the words and reading

Spatial or vision issues

Impaired reasoning /judgement skills

Movement difficulties and problems linked to smell perception is also seen in some cases

Involuntary muscle movements which are known as Myoclonus.

Psychosis

Obessessive compulsive disorder.

 


DIAGNOSTIC :

STAGES OF CREUDTZFELDT JACOB DISEASE DISEASES:

Mild stage:

greater memory loss and impaired cognitive functions.Wandering and getting lost,repeating the questions,difficulty in paying bills and collecting money,feeling difficult to do day to day activities,personality and behavioural changes.Patients are often diagnosed in this stage

Moderate stage:

In this stage the damage occurs to the brain cell that controls the language,reasoning,sensory processing and consciousness.Memory loss and confusion grows and the patients loss the ability to recognize the family and friends.The person find difficulty in dressing and to cope up with the new situations,inability to do multistep task.The patient might experience hallucinations,delusions and paranoia.

Severe stage:

The amyloid and tau tangles covers the brain and leads to shrinkage of the brain.Loss of communication and the patient is completely depend on the other for their survival.the patient is mostly bed ridden at this stage and he/she is nearer to death.

It is usually diagnosed with the history of the patient and behavioural changes and impaired cognitive functions.

Medical imaging:

Magnetic resonance imaging-MRI

Computed tomography-CT

Single photon emission computed tomography

Positron emission tomography : It is used in early diagnosis of Creudtzfeldt jacob disease disease.

Biomarker tests. A biomarker is a biological factor that can be measured to indicate the presence or absence of disease or the risk of developing a disease. The biomarker for Creudtzfeldt jacob disease disease is the beta amyloid,tau proteins and phsopho tau which are detected in the CSF

Neuropsychological test mainly to observe cognitive functions is done with MINI MENTAL STATE EXAMINATION


TREATMENT AND PROGNOSIS :

Pentosan polysulfate results in reduced spread of the disease.

Amphotericin B and Doxorubicin might also provide the same effect.

Astemizole an second generation histamine also has an anti prion activity

Medications used to treat the cognitive problems of Creudtzfeldt jacob disease's disease include: four  acetylcholine esterase inhibitors and mamentamine, an NMDA receptor antagonist

Memantine is believed to work by regulating glutamate, an important brain chemical. When produced in excessive amounts, glutamate may lead to brain cell death. Because NMDA antagonists work differently from cholinesterase inhibitors, the two types of drugs can be prescribed in combination

Rivastigmine: prevents the breakdown of the butyrl esterase.

 

 

 

 


PREVENTION :

Prevention:

  • Cover cuts and abrasions with waterproof dressings.
  • Wear surgical gloves when handling the person’s tissues and fluids or dressing any wounds.
  • Avoid cutting or sticking themselves with instruments contaminated by the person’s blood or other tissues.
  • Use disposable bedclothes and other cloth for contact with the person.If disposable materials are not available, regular cloth should be soaked in undiluted chlorine bleach for an hour or more, and then washed in a normal fashion after each use.
  • Use face protection if there is a risk of splashing contaminated material such as blood or cerebrospinal fluid.
  • Soak instruments that have come in contact with the person in undiluted chlorine bleach for an hour or more, then use an autoclave (pressure cooker) to sterilize them in distilled water for at least one hour at 132 - 134 degrees Celsius.