Creutzfeldt-Jakob disease

Introduction to Creutzfeldt-Jakob disease Cortical-striated-spinal degeneration (CJD) is a fatal, central nervous system disease characterized by rapid progressive dementia and focal lesions of the cerebral cortex, basal ganglia, and spinal cord. basic knowledge Sickness ratio: 0.0001% Susceptible people: no specific people Mode of infection: contact spread Complications: dementia, ataxia, coma

Creutzfeldt-Jakob disease etiology

The pathogenic prion protein of this disease is divided into four subtypes according to the structure: type 1 and type 2 cause dissipative CJD; type 3 is iatrogenic type CJD; type 4 is variant type, infectious prion protein can pass through cornea or dura mater Transplantation, application of human growth hormone and buried brain electrodes through the intestinal tract, operating room, pathological laboratory and preparation of brain-derived biological products are easy to be infected, medical personnel should pay attention to protect the body from damage, conjunctiva and skin, avoiding patients Blood, CSF or tissue contact, infectious prion protein gene mutation leads to familial CJD, autosomal dominant inheritance, scattered CJD transmission is unclear, CJD variant is considered to be bovine spongiform encephalopathy, that is, mad cow disease spread to humans.

Creutzfeldt-Jakob disease prevention

Prevention of iatrogenic and zoonotic infections is the key to the prevention of this disease. Therefore, all patients who are diagnosed or diagnosed with CJD should be treated according to isolation and destruction of sewage.

Creutzfeldt-Jakob disease complications Complications, dementia, ataxia, coma

Can develop into severe dementia, myoclonus usually prominent, may have muscle atrophy, limb weakness, rigidity, tremor and dance - fingering movements, but also aphasia, dysarthria and ataxia, late patients are coma, muscle array The cockroach disappeared, and more than 80% of the patients died within 1 year after the onset of illness, and a few delays lasted for more than 2 years.

Creutzfeldt-Jakob disease symptoms common symptoms depression dementia progressive dementia general dystonia anxiety insomnia persistent pain

Early psychiatric symptoms (depression, anxiety, apathy, withdrawal, delusion) persistent pain (pain and/or paresthesia), ataxia, myoclonus, chorea, dystonia, dementia.

Examination of Creutzfeldt-Jakob disease

Cerebrospinal fluid protein can be increased (<100mg/dL), normal brain protein 14-3-3 is increased (caused by a large number of brain neuron destruction), immunofluorescence detection (+) can be clinically suspected CJD, serum S100 protein continues to increase with the progress of the disease In the middle and late stages of the disease, the periodic spikes or spikes of the EEG showed rapid atrophy of the cortex and enlarged ventricles by CT or MRI at intervals of 2 to 4 weeks.

Diagnosis and identification of Creutzfeldt-Jakob disease

Diagnostic criteria

(1) loose hair CJD

1 diagnosed diagnosis

There are typical/standard neuropathological changes, and/or immunocytochemistry and/or Western blotting identified as protease-resistant PrP, and/or the presence of scrapie-associated fibers.

2 clinical diagnosis

With progressive dementia, typical EEG changes occur during the course of the disease, and/or cerebrospinal fluid 14-3-3 protein positive, and at least two of the following four clinical manifestations.

a. myoclonus

b. Visual or cerebellar disorders

c. Cone/pyramidal dysfunction

d. Unmoved silence

And the clinical course is shorter than 2 years.

3 suspected diagnosis

Has progressive dementia, and at least two of the following four clinical manifestations.

a. myoclonus

b. Visual or cerebellar disorders

c. Cone/pyramidal dysfunction

d. Unmoved silence

And the clinical course is shorter than 2 years.

4 All diagnoses should exclude other dementia-related diseases.

(2) iatrogenic CJD

It is based on the diagnosis of loose hair CJD.

1 Progressive cerebellar syndrome is present in patients receiving pituitary hormones extracted from the human brain; or

2 Determine the exposure risk, such as surgery such as dural transplantation and corneal transplantation.

(3) Family genetic type CJD

1 Family genotype CJD includes familial CJD, Gerstmann-Straussler-Scheinker syndrome (GSS), and family-type fatal insomnia (FFI).

2 Diagnosed or clinically diagnosed CJD patients with mutations in the PrP gene specific to the disease, and/or CJD cases with a definitive diagnosis or clinical diagnosis in the first-degree relatives.

(4) Variant CJD (variant CJD, vCJD)

1 medical history

Progressive neuropsychiatric disorder

b. The course of disease 6 months

c. routine examination does not prompt other diseases

d. No history of iatrogenic exposure

2 clinical manifestations

a. Early mental symptoms (depression, anxiety, apathy, withdrawal, delusion)

b. Persistent pain (pain and/or paresthesia)

c. Ataxia

d. Myoclonus, chorea, muscle tension disorder

e. Dementia

3 clinical testing

a. EEG has no typical diffuse CJD waveform (a three-phase periodic composite wave occurring once per second), or no EEG detection

b. MRI proton density phase appears bilateral posterior thalamic nodule high signal

4 tonsil biopsy positive

(The tonsill biopsy should not be used as a routine examination. It should not be performed after a typical Echo CJD-like wave pattern on the EEG. The clinical manifestations are similar to those of vCJD, and the MRI has no diagnosis of bilateral high-signal hypothalamic nodules. significance,)

5 diagnosis

a. Diagnostic diagnosis: 1a and vCJD neuropathological diagnosis (wide vacuole-like changes in the brain and cerebellum and "petal-like" PrP plaque deposition)

b. Clinical diagnosis: with any 4 of 1 and 2, and 3 or 1 and 4

c. Suspected diagnosis: with any 4 of 1 and 2, and 3a

Differential diagnosis

1. Identification with Alzheimer's disease;

2. When the subcortical involvement is obvious, it should be different from Parkinson's disease, olive pons cerebellar atrophy, and progressive supranuclear palsy;

3. Significant focal signs suggest that intracranial lesions may need to be differentiated from cerebral cysticercosis;

4. Pay attention to the identification of myoclonic epilepsy, acute metabolic diseases leading to mental changes and myoclonus.

The diagnosis of typical cases is not difficult. It occurs in relatively rapid dementia in adults, followed by myoclonus, and the cerebrospinal fluid is normal. When there is a characteristic EEG (except early), CJD diagnosis should be considered. The development of anti-pruritus factor antibodies that can cross-react with CJD-specific proteins can be used for rapid immunological diagnosis in brain biopsy or autopsy specimens.

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