2015年 · 第48卷第10期

cerebral venous sinus thrombosis (CVST) is a special type of cerebrovascular disease, accounting for 0.5% to 1.0% of all types of cerebrovascular diseases^[1]In the general tertiary hospitals in China, only a few patients are diagnosed every year. However, with the improvement of clinicians' understanding and diagnosis techniques, this disease is not uncommon, especially in oral contraceptives and perinatal women should be paid more attention^[2]。 At present, many large general hospitals in China treat more than 100 CVST patients annually. Therefore, it is extremely necessary to attach great importance to CVST in clinical work to achieve the purpose of early diagnosis and early treatment.

cerebral venous sinus thrombosis (CVST) refers to a special type of cerebrovascular disease, which is characterized by obstruction of cerebral venous return and often accompanied by cerebrospinal fluid absorption disorder, which leads to intracranial hypertension due to various causes. It accounts for about 0.5% ~1% of cerebrovascular diseases^[1]。 In a Canadian report, the incidence rate was 0.67/100,000 for children under 18, with newborns accounting for 43%^[2]； By contrast, in a report from the Netherlands, the incidence rate was 1.32 per 100,000 in adults, and 2.78 per 100,000 in women aged 31 to 50^[3]； The incidence of CVST in female puerperium is high, up to 10/100,000, accounting for about 5% ~20% of all CVST^[4]。 There is no relevant epidemiological data in China, but with the improvement of clinicians' understanding of this disease and diagnostic techniques, this disease is not uncommon, especially in oral contraceptives and perinatal women. The lesion site can be primarily from superficial vein, deep vein or venous sinus in the brain, among which simple superficial vein thrombosis is rare, mostly due to the extension of cerebral venous sinus thrombosis; Deep vein thrombosis is more common in internal cerebral veins and great cerebral veins. In more than 60% of patients, the lesions involved multiple venous sinuses, among which the incidence of above sagittal sinuses ranked first. Because of the anatomical anastomosis and communication between cerebral veins and venous sinuses, venous sinuses and venous sinuses, and venous sinuses and extracranial veins, when venous (sinus) thrombosis is formed, the difference of thrombus accumulation range, collateral circulation and other factors lead to complex and diverse clinical manifestations, which can range from no clinical symptoms to serious disease or even death. A 2013 case mortality survey of 11,400 hospitalized CVST patients showed 1.5% aged 15-49, 2.8% aged 50-64, and 6.1% aged 65 and older^[5]。 Due to the fluctuation of coagulation and fibrinolysis (fibrinolysis) state, the patient's condition alternates with remission and aggravation. Most of this disease has subacute or chronic occult onset. Except for cavernous sinus thrombosis, its clinical symptoms lack specificity, so it is easy to miss and misdiagnose. The missed diagnosis rate can reach 73%, and the average diagnosis time of 40% patients is more than 10 days^[6,7,8]。

Cerebrovascular disease has become the first cause of death among urban and rural residents in China. Among them, ischemic cerebrovascular disease caused by intracranial and extracranial large vessel stenosis accounts for the largest proportion. In recent years, with the continuous development of endovascular intervention technology, this diagnosis and treatment technology originating from peripheral blood vessels has been more and more used for the prevention and treatment of ischemic cerebrovascular disease. The Cerebrovascular Disease Group of Neurology Branch of Chinese Medical Association released the first edition of the Guidelines for Endovascular Interventional Diagnosis and Treatment of Ischemic Cerebrovascular Disease in China in 2011^[1]It has played a positive role in promoting the standardization of endovascular interventional diagnosis and treatment of ischemic cerebrovascular disease in China. In the past four years, some new theories, new technologies and new research evidence have emerged in endovascular diagnosis and treatment technology. In order to adapt to the development of the discipline, the Cerebrovascular Disease Group and the Neurovascular Intervention Collaborative Group of Neurology Branch of Chinese Medical Association updated and revised the 2011 version of the guidelines, in order to further improve the level of interventional diagnosis and treatment of ischemic cerebrovascular disease in China. During the development of this guideline, the latest evidence of evidence-based medicine was reviewed by referring to some of the relevant international guidelines. Given that the Guidelines for Early Endovascular Intervention in Acute Ischemic Stroke in China have been published in the previous period^[2]Therefore, the corresponding content will not be repeated in this edition of the guide.

Cerebral small vessel disease is a common clinical cerebral vascular disease, with occult onset, slow development and some acute attacks. The clinical manifestations are complex, the diagnosis is difficult, and it is easy to cause confusion in diagnosis and treatment. In recent years, with the rapid development of neuroimaging, people's understanding of clinical, diagnosis and treatment of cerebral small vessel disease has been significantly improved, and the diagnosis rate of cerebral small vessel disease has also increased significantly. In order to carry out standardized diagnosis and treatment, this consensus was reached after many discussions by relevant experts from the Cerebrovascular Disease Group of the Neurology Branch of Chinese Medical Association.

Acute cerebral infarction is the most common type of cerebrovascular disease, accounting for 60% ~80%, and the mortality rate is 10% ~15%. The high disability rate seriously affects the quality of life of patients and their families. Intravenous thrombolysis is the most important and effective treatment for acute cerebral infarction. Many prevention and treatment guidelines for cerebrovascular disease recommend that alteplase, recombinant tissue plasminogen activator (rt-PA), be used within 4.5 hours of onset to treat acute cerebral infarction^[1,2]。 Oxidative stress is a state in which the production of reactive oxygen species clusters and the imbalance between antioxidant defense systems in the body lead to tissue damage. When ischemic stroke occurs, a large number of harmful substances such as free radicals and inflammatory factors are released and accumulated in the body, causing mitochondrial dysfunction, leading to peroxidative damage and inflammatory reaction of neurons. At present, it is believed that reactive oxygen species cluster is one of the basic mechanisms of brain damage during stroke^[3]。 After vascular endothelial injury, the permeability of vascular wall increases, low density lipoprotein is oxidized to oxidized low density lipoprotein (OX-LDL), and macrophages engulf the foam cells, which become the core link of atherosclerosis (AS)^[4]。 After cerebral infarction, OX-LDL levels continue to rise, which may continue to aggravate AS and cause recurrence of cerebral infarction^[5]。 On the contrary, glutathione peroxidase (GSH-PX) is an important antioxidant enzyme in organisms, which can protect the structural and functional integrity of cell membranes, and can reflect the damage of free radicals to brain tissue^[6]。 The concentration of OX-LDL and GSH-PX can reflect the antioxidant capacity of the body and understand the degree of brain injury in patients with cerebral infarction. Therefore, we observed the neurological deficit scores and prognosis of patients with acute cerebral infarction before and after intravenous thrombolysis, measured their oxidative stress indexes (OX-LDL and GSH-Px) levels, and analyzed the possible mechanism of intravenous thrombolysis in the treatment of acute ischemic stroke, so as to provide guidance for clinical treatment.

cervical dystonia (CD) is a focal dystonia of abnormal movement and posture of the head due to persistent involuntary contraction of the neck muscles^[1,2]。 sensory tricks are sensory stimuli, including touch, that can relieve symptoms^[3], present in approximately 75% of patients with CD^[4]。 We report a case of an unusual "negative" sensory trick as follows.

familial hemiplegic migraine (FHM) is a rare autosomal dominant hereditary disease. It is a subtype of migraine with aura (MA), which usually starts in childhood and adolescence. It is mainly manifested as migraine, unilateral limb weakness and other aura such as visual, sensory and verbal aura. According to foreign literature reports, FHM is mainly related to the mutation of CACNA1A gene, ATP1A2 gene and SCN1A gene^[1]。 There are few reports in China, and there are no literature reports of FHM complicated with ataxia caused by CACNA1A gene mutation. The clinical characteristics and CACNA1A gene sequencing results of a family with FHM complicated with ataxia collected by us are reported below.

Danon's disease is a rare X-linked dominant lysosomal storage disease, first reported in 1981^[1]In 2000, the disease-causing gene was identified as lysosomal membrane protein 2 (LAMP-2) gene^[2]。 Danon's disease is more common in men, with hypertrophic cardiomyopathy, skeletal muscle disease and mental retardation as its typical triad. Danon's disease is rarely reported in China. The clinical, skeletal muscle pathology and genetic characteristics of a patient with Danon's disease without obvious intellectual disability are presented.

Patients with brucellosis are usually acquired by direct or indirect contact with animals, and their typical clinical manifestations are chronic fever, hyperhidrosis, joint pain, hepatosplenomegaly, and a few are mainly manifested by central nervous system symptoms^[1]。 A case of neurobrucellosis with mental and behavioral abnormalities as the first symptom is reported as follows.

Guillain-Barré syndrome (GBS) is a common autoimmune disease of the nervous system, but GBS manifesting as atresia syndrome (LIS) is less common^[1,2]While there is still controversy about whether such patients are accompanied by central nervous system lesions^[3]。 A case of GBS with atypical Bickerstaff's brainstem encephalitis (BBE) was recently admitted to our hospital, and the clinical manifestation was incomplete LIS, which is reported below.

The application of diffusion-weighted magnetic resonance imaging (DWI) provides more information for the diagnosis of stroke than before. More and more studies have found that diffusion abnormalities often occur on DWI after spontaneous intracerebral hemorrhage (sICH), that is, the high signal of DWI and the value of apparent diffusion coefficient decrease^[1]。 Although the pathophysiological mechanism of these lesions has not been defined, their imaging features suggest that they are acute infarction^[2,3]。 In recent years, these lesions have gradually attracted people's attention. At present, some studies have put forward some hypotheses on their mechanism and relationship with clinical prognosis. Therefore, we review the research progress of acute asymptomatic infarction after sICH as follows.

intracerebral hemorrhage (intracerebral hemorrhage) is a fatal acute cerebrovascular disease, accounting for 15% to 20% of strokes^[1]。 The formation of intracranial hematoma may be followed by secondary injury, resulting in a series of neurological deficit events^[2]。 At present, the mechanism of brain tissue damage caused by cerebral hemorrhage is a hot spot in scientific research. Brain injury after cerebral hemorrhage is divided into primary and secondary. Primary brain injury mainly refers to the space-occupying effect of hematoma, direct mechanical compression of surrounding tissues; Secondary brain injury lies in the formation of cerebral edema around hematoma, increased intracranial pressure, and hypoperfusion of surrounding tissue compression. The mechanism mainly involves the destruction of blood-brain barrier, thrombin release, inflammatory reaction, immune damage, apoptosis, etc^[3,4]。 Recent evidence suggests that the inflammatory response runs through all stages of cerebral hemorrhage injury and plays a key role in the process of neurological deficits^[5,6]。 We reviewed the relationship between cerebral hematoma, cerebral edema and inflammatory response, the role of inflammatory factors and the methods of inhibiting inflammatory factors.

Common neurodegenerative diseases include amyotrophic lateral sclerosis (ALS), Parkinson's disease, and Alzheimer's disease (AD). Although there are their own clinical diagnostic criteria, due to the high early misdiagnosis rate of the disease, the final diagnosis "gold standard" still needs to rely on autopsy pathological examination. Simple biological indexes to assist in diagnosis, predict disease progression and judge prognosis are urgently needed in clinic^[1]。 The chemical formula of uric acid is C₅H₄N₄O₃, also known as 7,9-dihydro-2,6,8 (3H) trione-1H-purine, with a relative molecular mass of 168. Uric acid has historically been considered a waste product of cellular metabolism, but it is now receiving increasing attention. Researchers found that it is directly involved in the pathogenesis of many neurological diseases, has antioxidant effects, and is an endogenously produced water-soluble antioxidant. On the one hand, low levels of uric acid are harmful to neurons because it weakens the cell's antioxidant capacity. High levels of uric acid can cause inflammatory reactions leading to gout or exert neuroprotective effects^[2,3]。 Low uric acid levels are seen in a variety of neurodegenerative diseases, including ALS, Parkinson's disease, AD^[4,5,6]。 The research progress of the correlation between uric acid and the above diseases is briefly summarized as follows.

Patients with Parkinson's disease often develop pathological changes and prodromal symptoms several years or even decades before the appearance of motor symptoms, including olfactory disorders, constipation, sleep disorders, mood changes and autonomic nervous function changes, etc. This period is called pre-exercise Parkinson's disease. At present, there are problems such as insufficient attention and difficulty in diagnosis of preexercise Parkinson's disease, and biomarkers and early treatment are also affected.

In neurodegenerative diseases with cognitive dysfunction as the main clinical feature, the decrease of synapse number is one of the main neuropathological changes^[1]。 The brain is formed by a network of neurons interconnected by synapses, a fundamental feature of connectivity within motor neurons. Long-term activity-dependent synaptic plasticity transformation can promote the formation of cell-related memory learning. Long-term synaptic adaptive transformation is the cellular basis of brain information storage. Long-term enhancement (LTP) and long-term inhibition (LTD) of excitatory neurotransmission have been widely studied, and various studies have shown that this process plays a key role in learning and memory. We mainly take the mechanism of postsynaptic plasticity as the starting point, and combine the latest research results to analyze the research direction and achievements of synaptic plasticity, so as to provide ideas for further research on synaptic plasticity in the process of learning and memory.

neuromyelitis optica (NMO) is an inflammatory demyelinating disease of the central nervous system (CNS) with a tendency to relapse and remission, mainly involving the optic nerve and spinal cord. There is a specific IgG antibody in the serum of NMO patients, namely NMO-IgG, which can specifically bind to aquaporin-4 (AQP4) on astrocyte (AS) and elicit a series of abnormal immune responses, resulting in disease development. The discovery of NMO-IgG supports that NMO is a disease independent of multiple sclerosis (MS).

Although the latest study on the incidence of stroke in the Chinese population has not yet been published, data from the United States show that at present, about 795,000 people suffer from stroke in the United States every year, of which about 610,000 are the first-time disease, suggesting that primary prevention of stroke is particularly important^[1]。 October 2014 American Heart Association (AHA) /American Stroke Association (ASA) Writing Committee inStrokeA new version of the guidelines for primary stroke prevention was published in the journal, which summarized the results of trials published after the previous version of the guidelines was published in December 2010, briefly reviewed the new trial data, updated some guidelines, and provided the basis for updating^[2]。 Although this guideline is formulated for western populations, it has important reference value for China to formulate relevant guidelines and carry out primary stroke prevention.

The 25th International Conference on amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) was held in Brussels, Belgium, in December 2014. The conference was divided into 21 topics, involving brand-new perspectives and new research findings on the understanding of ALS/MND diseases in recent years. Professor Cui Liying of Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, as a representative of China, chaired one of the two sub-venues of this conference, and made a research report on the genotype and clinical characteristics of ALS patients in mainland China at the conference. At the same time, Professor Cui Liying's speech at the conference was also rated as "HIGHLIGHT". The contents of some of the topics of the meeting are briefly described below.

From April 9 to 11, 2015, the 15th China Cerebrovascular Disease Conference (CCCD) 2015 was held in Nanjing, Jiangsu Province. The conference was sponsored by Chinese Medical Association and Neurology Branch of Chinese Medical Association, undertaken by Cerebrovascular Disease Group of Neurology Branch of Chinese Medical Association, Jiangsu Medical Association and Neurology Branch of Jiangsu Medical Association, and co-organized by Gulou Hospital affiliated to Nanjing University School of Medicine. The opening ceremony was presided over by Professor Xu Yun, standing member of the Neurology Professional Committee of Chinese Medical Association and chairman of the Neurology Branch of Jiangsu Medical Association. Professor Liu Ming, head of cerebrovascular diseases group of Neurology Branch of Chinese Medical Association, Professor Pu Chuanqiang, chairman of Neurology Branch of Chinese Medical Association, Professor Han Guangshu, president of Gulou Hospital affiliated to Nanjing University School of Medicine, Professor Huang Zuhu, deputy director of Jiangsu Provincial Health and Family Planning Commission and executive vice president of Jiangsu Medical Association, Professor Huang Jiaxing, secretary general of World Stroke Organization, Wu Mingjiang, vice president of Chinese Medical Association and Academician Wang Longde, president of Chinese Preventive Medicine Association, respectively delivered speeches to the conference.

Recently, I had the honor to read "Research Progress of Neurobehavioral Comorbidities of Epilepsy" published in the 8th Issue of Chinese Journal of Neurology in 2013^[1]One article. This article introduces the research progress of epilepsy patients with neurobehavioral disorders from several aspects, such as epidemiology of epilepsy with neurobehavioral disorders, influencing factors of epilepsy with neurobehavioral disorders, possible pathogenesis of epilepsy with neurobehavioral disorders, and treatment of neurobehavioral disorders, aiming at improving the clinical diagnosis and treatment level of epilepsy with neurobehavioral disorders. However, I also feel that the use of the term "comorbidity" in the article is inappropriate, which is worthy of discussion.