Gerstmann syndrome
Introduction
Introduction to Gustman syndrome Gerstmann syndrome (GSS), which was first discovered and described by Gerstmann, Straussler and Scheinker in 1936, was named after them. It is characterized by cerebellar ataxia accompanied by dementia and amyloid deposition in the brain, mostly familial. In 1981, Masters vaccinated animals confirmed the infectivity of the disease, with an average duration of 5 years. The average age of onset is 43 to 48 years old (24 to 66 years old), which is a degenerative dementia of the middle-aged cerebellar spinal cord. Contrary to CJD, myoclonus is rare or absent. The diagnosis was confirmed by brain tissue examination and animal inoculation. Pathological findings are similar to other TNDs in amyloid plaques. In the cerebellum, nerve fibers are mainly surrounded by Alzheimer's disease, which is similar to Alzheimer's disease in senile dementia, but immunostaining with anti-Prpsc antibody is positive, and -amyloid antibody is used. Negative staining can be identified. basic knowledge The proportion of illness: 0.005% Susceptible people: middle-aged people who are born in 43 to 48 years old Mode of infection: non-infectious Complications: ataxia, deafness
Cause
Cause of Gerstmann syndrome
(1) Causes of the disease
GSS syndrome is a rare TND with an annual incidence of 1 to 10/1 billion people. It is reported to be familial. So far, 24 unrelated families have been diagnosed worldwide, and some genes are derived from Prp. Caused by mutation.
(two) pathogenesis
The pathogenesis of scorpion venom disease is still not very clear. It is currently believed that scorpion venom itself can enter itself or spontaneously due to genetic variation. For infectious prion diseases, scorpion venom can be administered orally, by injection or surgery. The way to enter the human body, the possible ways of invading the brain tissue after entering the human body include direct neurotransmission from the infected site, first replication in the mononuclear phagocytic system, and then through different processes such as neuronal spinal cord diffusion and blood-borne diffusion. The initiation of toxic pathogenesis is the transformation of PrPsc into PrPc, which makes PrPsc accumulate in the central nervous system. How does PrPsc cause nerve cell damage remains to be elucidated? Related studies suggest that PrPsc has neurocytotoxicity and can cause neuronal apoptosis (apoptosis). PrPc is soluble, and after being transformed into insoluble PrPsc, it precipitates into amyloid plaques in brain tissue and causes damage; the complex formed by the combination of PrPc and copper atoms has superoxide dismutase (SOD)-like activity. When PrPc becomes PrPsc, it leads to the lack of PrPc, which reduces the SOD activity of nerve cells, and thus is sensitive to oxidative damage caused by superoxide and the like. Increased, and can make the nerve cells to high acid and high toxicity of copper increased sensitivity, leading to nerve cell degeneration and death.
Prevention
Gustman syndrome prevention
In view of the fact that there is no effective treatment for scorpion venom disease, it is extremely important to prevent it. There is no vaccine-susceptible population.
1. Control the source of infection to slaughter scorpion venomous diseases and suspected sick animals, and properly handle the carcasses of animals, effectively killing scorpion venom methods including incineration, autoclaving at 132 ° C for 1 h, 5% calcium hypochlorite or 1 mol /L sodium hydroxide for 60min soaking, etc.; restricting or prohibiting the production of medical products derived from blood products and animal materials in infected areas; patients with scorpion venom and any neurodegenerative diseases, who have received organ extracting hormone therapy, Those with a family history of scorpion venom and those who have lived in the affected area for a certain period of time are not allowed to serve as donors of organs, tissues and body fluids; they are monitored for hereditary prion family, and genetic counseling and eugenics screening.
2. Cut off the transmission route to eliminate the abuse of human tissue, do not eat animal meat and products of scorpion venom disease, do not feed animals with animal tissue feed, medical procedures strictly follow the disinfection procedures, and advocate the use of disposable neurosurgical instruments.
Complication
Gestman syndrome complications Complications, ataxia, deafness
In the late stage, severe ataxia and dementia are present, and blindness, deafness, pyramidal tract signs, and extrapyramidal signs can be present, accompanied by myoclonic seizures, especially in the calf muscles.
Symptom
Gustman syndrome symptoms common symptoms muscle atrophy weakness deafness gait instability dementia insomnia tremor intelligent disorder
1. Early patients complained of numbness in the lower leg, pain, paresthesia and gait instability. Examination showed cerebellar ataxia, accompanied by weakness of lower limb muscle atrophy, loss of distal sensation, decreased sacral reflex and other peripheral neuropathy, and the disease progressed further. Mental retardation disorder occurs, dementia appears late and lighter, and there are also pyramidal beam signs or extrapyramidal signs.
2, late in the appearance of severe ataxia and dementia, and can appear blindness, deafness, pyramidal tract signs and extrapyramidal signs, accompanied by myoclonic seizures, especially in the calf muscles.
Examine
Examination of Gustman syndrome
1. Histopathological examination of lesions of brain tissue can be seen in cavernous vacuoles, amyloid plaques, nerve cell loss with gliosis, minimal leukocyte infiltration and other inflammatory reactions.
2. Immunological examination of a variety of immunological methods, such as immunohistochemistry, immunoblotting, enzyme-linked immunosorbent assay (ELISA), etc., has been used to detect PrPsc in tissues, using anti-PrP27 ~ 30 antibodies, can be in the sulfur PrPsc was detected in the diseased tissue after guanidine cyanate and autoclave or proteinase K digestion and dissolved PrPc. Monoclonal antibody 15B3 can only bind to PrPsc, so PrPc and PrPsc can be identified without treatment of dissolved PrPc, including brain and spinal cord. , tonsil, spleen, lymph nodes, retina, conjunctiva and thymus and other tissues, using Western blotting method, can detect a more characteristic brain protein 14-3-3 in cerebrospinal fluid, this protein is a kind The neuronal protein which can maintain the stability of other protein configurations is abundant in normal brain tissue but does not appear in the cerebrospinal fluid. When the scorpion venom is infected, a large amount of brain tissue is destroyed, so that brain protein 14-3-3 leaks into the cerebrospinal fluid.
3. Animal inoculation test The suspicious tissue homogenate is intracerifred or orally inoculated into animals (usually used rats, sheep, etc.) to observe the incidence of the vaccinated animals. After the onset, the brain tissue biopsy has the characteristic pathology of scorpion venom disease. Change, the sensitivity of this method is limited by the inter-species barrier and takes a long time.
4. Physical examination EEG can have characteristic periodic sharp wave complexs (PSWC) with auxiliary diagnostic value. In addition, computed tomography (CT) and magnetic resonance imaging (MRI) brain images Learning to identify scorpion venom and other central nervous system diseases.
5. Molecular biological examination DNA was extracted from peripheral blood leukocytes of patients, PCR amplification and sequence determination of PRNP, and PRNP characteristic mutations of familial hereditary prion diseases were found.
Diagnosis
Diagnosis and diagnosis of Gustman syndrome
Diagnose based on:
The diagnosis of scorpion venom depends on the pathological examination of brain tissue, so it is difficult to diagnose before birth.
1. Epidemiological data on mad cow disease Suspected animal-derived foods have undergone electrode implantation from organs that may be infected with scorpion venom donors or may be contaminated by scorpion venom, using organ-derived human hormones and sputum A family history of toxic diseases can help diagnose the disease.
2. Clinical manifestations Although most of the scorpion venoms are progressive dementia, ataxia and myoclonus: but different scorpion venoms also have their own characteristics, such as the age of sporadic gram-ya disease Large, more with a dementia after ataxia, and the new variant of Ke-Ya disease is younger; Kelu disease tremor is significant, often with dementia after ataxia; Jetsman-Sta Sile - Streptococcus syndrome is mostly characterized by ataxia and other cerebellar damage, and rare dementia; fatal familial insomnia is characterized by progressive insomnia.
3. Laboratory examination of the cavernous pathological changes of brain tissue and the immunological detection of PrPsc positive are of great significance in the diagnosis of the disease: brain protein 14-3-3 and electroencephalogram PSWCs in cerebrospinal fluid have auxiliary diagnostic value, PRNP sequence base The genetic analysis of the base mutation contributes to the diagnosis of familial prion diseases.
Differential diagnosis
The disease mainly needs to be differentiated from other progressive central nervous system diseases, such as Alzheimer disease (alzheimet disease), multiple sclerosis, and other brain diseases caused by non-scorpion venom infection. Sponge-like changes and no PrPsc positive.
