2015年 · 第48卷第06期

"To cure sometimes, to relieve often, to comfort always," is Dr. Trudeau's famous epitaph, which translates to: "sometimes to cure, often to relieve, always to comfort." Neurologists may feel more deeply about this inscription. Counting down the major neurological diseases, there are few cases that can be cured. Even if they are "often alleviated", they will end up running out of skills. How to get out of the dilemma of treatment? In fact, ancient Chinese doctors have long made it clear: "Upper work treats the disease before it, middle work treats the disease of desire, and lower work treats the disease already." At present, the neurological community is also working in this direction, hoping to predict the occurrence of diseases earlier, because only in this way, there is a chance to achieve truly effective treatment and improve the prognosis of diseases. This direction is early diagnosis.

The incidence of intracerebral hemorrhage in all subtypes of stroke is second only to ischemic stroke, ranking second. The incidence of cerebral hemorrhage in the population is (12-15) per 100,000 person-years. In Western countries, cerebral hemorrhage accounts for about 15% of all strokes and 10% to 30% of all hospitalized stroke patients. In China, the proportion is even higher, 18.8% to 47.6%^[1,2,3,4,5]。 Cerebral hemorrhage is dangerous, the condition changes quickly, and the fatality and disability rate is high. More than 70% of patients develop early hematoma enlargement or involvement of cerebral ventricles, and the mortality rate within 3 months is 20% ~30%^[1,2]。 Cerebral hemorrhage also leads to a heavy social and economic burden. In 2003, statistics in China show that the direct medical expenses of cerebral hemorrhage are 13.72 billion yuan/year^[6]。 Therefore, clinicians need to pay more attention to the diagnosis and treatment of cerebral hemorrhage. In recent years, there has been some progress in the diagnosis and treatment of cerebral hemorrhage. Early, active and reasonable treatment can improve the clinical outcome of patients^[7]At the same time, researchers at home and abroad are still making unremitting efforts to explore effective treatments. Therefore, the Cerebrovascular Disease Group of Neurology Branch of Chinese Medical Association summarized the research progress at home and abroad in recent years, and referred to relevant international guidelines^{[7,8,9,10,11]}, in the first edition of Chinese guidelines for cerebrovascular diseases^[12]This guide is compiled on the basis of the update and revision of the diagnosis and treatment of cerebral hemorrhage, which is mainly applicable to primary cerebral hemorrhage (cerebral hemorrhage secondary to trauma is not covered by this guide). The revised principles, recommendation strength and evidence level criteria of this guideline follow the relevant consensus of the Cerebrovascular Disease Group of Neurology Branch of Chinese Medical Association^[13]。

The concept of narcolepsy was first proposed by the French physician Gélineau in 1880^[1]。 The clinical manifestations of this disease mainly include recurrent episodes of uncontained sleep during the day, cataplexy attacks and nighttime sleep disorders^[2,3,4]。 The characteristic pathological change of narcolepsy is the neuron-specific loss of hypocretin (Hcrt) in the lateral region of the hypothalamus. The International Classification of Sleep Disorders, 3rd edition (ICSD-3) classifies narcolepsy into two types based on clinical manifestations and the content of hypothalamic secretin-1 (Hcrt-1) in cerebrospinal fluid^[2](1) narcolepsy type 1, Hcrt deficiency syndrome, formerly known as narcolepsy with cataplexy, with a significant decrease in Hcrt-1 levels in cerebrospinal fluid as an important indicator; (2) narcolepsy type 2, formerly known as narcolepsy without cataplexy, usually without a significant decrease in Hcrt-1 levels in the cerebrospinal fluid. The patients' alertness and muscle tone decreased during the onset of this disease, which seriously affected the ability of learning, living and working^[3]Often misdiagnosed as epilepsy, transient ischemic attack or mental and psychological disorders. The disease usually takes 2 to 10 years from onset to diagnosis^[5,6,7]。 Available evidence suggests that polygenic predisposition, environmental factors, and immune response are involved in the pathogenesis of narcolepsy^{[7,8,9,10,11]}。

Clinical studies have confirmed that hypothermia treatment in patients with coma after cardiopulmonary resuscitation is safe and effective, and its brain protection and neurological improvement are consistent with the results of animal experiments. However, there are more patients in coma after brain injury or patients with spinal cord injury who need to carry out clinical research on hypothermia therapy and strengthen the norms of hypothermia therapy. Therefore, the Neurocritical Care Collaborative Group of the Neurology Branch of the Chinese Medical Association retrieved and reviewed the relevant literature on adult hypothermia treatment (Medline database from 2000 to 2013), and used the 2011 version of the Evidence grading standard of Oxford Center for Evidence Based Medicine (CEBM) to confirm the Evidence level and confirm the recommendation opinion^[1]Raising the recommendation level (Level A recommendation) for the opinion that the evidence is not sufficient for the time being, but the expert discussion reaches a high consensus.

hereditary ataxia (HA) is a large class of hereditary neurodegenerative diseases with high clinical and genetic heterogeneity, high mortality and morbidity rate, accounting for about 10% ~15% of hereditary neurological diseases^[1,2]。 In Europe, the prevalence of autosomal dominant cerebellar ataxia (ADCA) is (1~3) /100,000^[3]The prevalence of Friedreich ataxia (FRDA), the most common in autosomal recessive cerebellar ataxia (ARCA), is (3~4) /100,000^[4]。 HA occurs more than 20-40 years old, but it also occurs in infants and the elderly. Clinically, co-taxic dyskinesia is the main feature, which can be accompanied by complex nervous system damage, such as pyramidal tract, extrapyramidal system, cerebral cortex, spinal cord, cranial nerve, spinal nerve, autonomic nerve and other symptoms, and can also be accompanied by non-nervous system manifestations such as heart disease, endocrine and metabolic abnormalities, skeletal deformities, skin lesions, etc. The inheritance mode of HA is mainly autosomal dominant (AD), some can be autosomal recessive (AR), and very few are X-linked and mitochondrial. Sporadic cases are also not uncommon. In recent 20 years, the development of molecular genetics has made the genetic diagnosis of HA possible. In ADCA in China, spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common, accounting for 60% ~70% of SCA^[5,6], which is similar to European and American countries, while SCA1, SCA2, SCA6, and SCA7 are rare^[5,7,8,9]Other SCA subtypes are rare. In ARCA in China, ataxia telangiectasia (AT) has been reported, and other subtypes such as ataxia with vitamine E deficiency (AVED) and ataxia with oculomotor apraxia (AOA) have been reported. And other rare reports, FRDA has only clinical reports and lacks genetic diagnosis. At present, domestic clinicians' understanding of HA as a whole is not sufficient, and clinical diagnosis is easy to be missed or misdiagnosed, and the level of genetic counseling, treatment and preventive measures is low. In order to further improve clinicians' understanding of HA, the expert consensus on the diagnosis and treatment of HA was formulated based on the opinions of domestic experts.

limbic encephalitis (LE) is an inflammatory disease of the central nervous system in which the lesions mainly involve the limbic system such as hippocampus, amygdala, insula and cingulate cortex, resulting in structural and functional abnormalities of the above parts and leading to related symptoms^{[1,2,3,4,5,6]}。 LE is often associated with tumor and autoimmunity^[1,2,3,5,7]。 Most scholars believe that anti-gamma-aminobutyric acid B (anti-GABA_B) Receptor encephalitis belongs to a type of autoantibody-mediated LE. At present, the number of reported cases abroad does not exceed 30, and only Song Zhaohui et al. in China^[8]It is reported that only 3 positive cases of this receptor antibody were screened out of nearly 100 patients proposed to be diagnosed with LE. Zhang et al.^[9]First report of one case of anti-GABA_BReceptor-positive female LE cases with positive anti-neuronal nuclear antibody I (anti-Hu) antibody, but no pathological biopsy (biopsy) was performed to confirm the tumor. We report a case of non-small cell carcinoma confirmed by biopsy with anti-GABA_BPatients with receptor encephalitis for reference by clinicians.

POEMS syndrome is a rare clonal plasma cell disease characterized by polyneuropathy (P), organomegaly (O), endocrinopathy (E), M-protein (M) and skin changes (S). It also has sclerosing bone disease, Castleman disease, papilledema, hemangioma and other manifestations^[1]But gastrointestinal involvement is less common. We report a case of POEMS syndrome with armor-like chest wall lesions as the first manifestation and gastric adenocarcinoma.

The etiology of spontaneous intracranial hypotension (SIH) is still unknown, and spontaneous meningocerebrospinal fluid leakage may be an important cause. Most patients with SIH have found the existence of cerebrospinal fluid leakage through imaging examination^[1]。 A case of SIH caused by extensive meningocerebrospinal fluid leakage is reported as follows.

central pontine myelinolysis (CPM) was reported by Adams et al.^[1]First proposed in 1959. Its pathological features are: the symmetry of the basal part of the pons is similar to bat-like lesions, in which the myelin sheath is lysed, while the neuronal axons are relatively intact. The concept of "demyelination" is not used because pathologically demyelination is not accompanied by inflammatory response, unlike demyelinating diseases such as multiple sclerosis. Since then, the concept of CPM has gradually expanded to extrapontic lesions called extrapontine myelinolysis (EPM). Clinically, the occurrence of EPM alone is small (11%), and most of them appear in the form of CPM or CPM combined with EPM (40%)^[2]。 We report the imaging features of a patient with CPM combined with EPM onset.

The diagnosis of brucellosis is mainly based on epidemiology, clinical manifestation and laboratory examination. From the differences between first and recurrent brucellosis pointed out in the current domestic literature^[1]: First-episode brucellosis has higher serological titer and more sensitive blood culture; Symptoms of joint pain in recurrent brucellosis are more pronounced; In terms of time, after the first onset of the disease is cured, it is recurrent, and the interval between the two onsets is less than 1 year. Otherwise, it is a new onset. We admitted a patient with obvious and prolonged joint pain symptoms after admission, STA 1:200 positive, this onset was 1 year longer than the previous onset, and a well-diagnosed recurrent brucellosis, which is reported below.

The incidence rate of intracranial sinus thrombosis accounts for 1% of all strokes, and the annual incidence rate is about (3~4) /1 million. It is more common in adolescents, and 85% of patients have clear factors of thrombosis^[1]。 Hyperthyroidism has been identified as one of the predisposing factors of intracranial sinus thrombosis^[2]。 13.4% of patients with intracranial sinus thrombosis had a poor prognosis, with associated factors including concurrent venous infarction, hemorrhage, epilepsy, and disorders of consciousness, which were defined as severe sinus thrombosis^[3]。 Mortality in patients with severe venous sinus thrombosis is 30%^[3]。 At present, there is no literature to study the pathogenesis factors of severe venous sinus thrombosis. A case of hyperthyroidism with acute venous sinus thrombosis is reported as follows.

multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS). About 2.5 million people worldwide suffer from MS^[1]There are an estimated 50,000 to 100,000 MS patients in mainland China. MS is one of the main causes of disability in young people. Early diagnosis and timely and appropriate intervention are necessary to improve the prognosis of MS patients and reduce the disability rate. However, at present, the diagnosis of MS still depends on clinical manifestations and imaging examinations. Therefore, it is of great significance to find biomarkers related to the pathophysiological process of MS.

Alzheimer's disease (AD) has become a major disease that seriously threatens the health and quality of life of the elderly. AD has a hidden onset and slow progression. It is a continuous disease spectrum including preclinical stage, mild cognitive impairment (MCI) stage and dementia stage. At present, treatment cannot reverse the course of the disease. Early diagnosis and timely intervention are the key measures to delay the progression of the disease. Biomarkers can detect disease-related pathophysiological changes in vivo, which is an important means to improve the diagnostic efficacy of early AD. Since five biomarkers were first included in the diagnostic criteria for AD in 2007^[1]Clinical researchers have deepened their understanding of the role of various biomarkers in the diagnosis of AD. We will summarize the current research status of biomarkers in early diagnosis of AD and look forward to its future development trend.

In addition to motor symptoms, non-motor symptoms (NMS) can appear in all stages of Parkinson's disease. Some studies have shown that some NMS such as depression, constipation, olfactory disorders, and sleep behavior disorder (RBD) during rapid eye movement may already exist before the appearance of motor symptoms, and this period can last for 5 to 20 years^[1,2]。 To study the abnormalities in subclinical stage of Parkinson's disease, so as to find the target of early diagnosis and prevention and treatment of Parkinson's disease is a hot research topic at home and abroad. We conduct a systematic review on the role of NMS as a clinical marker in the early diagnosis of Parkinson's disease.

amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that selectively affects the anterior horn cells of the spinal cord, the motor nucleus of the brainstem, the cortical pyramidal cells and the pyramidal tract. Clinically, there may be symptoms of muscle weakness, muscle atrophy and pyramidal tract signs involving upper and lower motor neurons at the same time. At present, the etiology of this disease is not clear, and the disease is progressively developing. Therefore, there is still a lack of specific treatment, and the prognosis is poor. The median survival time is only about 3~5 years. Although it is relatively rare in natural populations, it still brings a heavy care and economic burden to the families of patients and even the society. Therefore, it is of practical significance to understand the epidemiological characteristics of this disease for advancing its related research and formulating health policies. Our research in this area is reviewed as follows.