2018年 · 第51卷第05期

It is well known that the knowledge of Alzheimer's disease (AD) began with the autopsy brain of patient Auguste Deter. In 1906, Alois Alzheimer reported the clinical situation of this patient, and later found senile plaques and neurofibrillary tangles in his necropsy brain. In 1910 Dr. Emil Kraepelin named the disease after Alzheimer. In 1984 and 1986, in necropsy brain tissues of AD patients, doctors gradually confirmed that senile plaques are deposits of beta amyloid protein and neurofibrillary tangles are accumulations of hyperphosphorylated tau protein^[1]。

Insomnia is one of the most common sleep problems. Epidemiological studies show that 45.4% of respondents in China have experienced varying levels of insomnia in the past month^[1]。 Long-term insomnia affects an individual's normal life and work, and increases the risk of various health problems. Severe sleep deficiency will reduce the work efficiency and alertness level of patients, and may even lead to malignant accidents, causing huge losses^[2,3]。 In order to standardize the diagnosis and treatment of insomnia in China, experts in related fields formed the "Expert Consensus on the Definition, Diagnosis and Drug Treatment of Insomnia in China" in 2006, and then launched the "Chinese Adult Insomnia Diagnosis and Treatment Guidelines" in 2012 after extensive discussion within the framework of evidence-based medicine^[4]。 This guide provides clinicians with a more comprehensive, standardized and operational diagnosis and treatment plan for adult insomnia. In recent years, the international classification and diagnostic standards related to insomnia have been adjusted, new therapeutic drugs have been launched, and domestic clinical diagnosis and treatment experience for insomnia has been constantly accumulated and enriched. These changes have contributed to this revision.

autoimmune encephalitis (AE) is a new class of central nervous system diseases mediated by antigen-antibody autoimmune response. Its clinical manifestations are varied, mainly manifested as near-memory loss with acute or subacute onset, cognitive impairment, changes in consciousness, psychiatric symptoms and epileptic seizures, etc., which are relatively rare in clinic. AE can be divided into anti-intracellular antigen antibody encephalitis (anti-Hu, Yo, Ri, Ma2/Ta, CV2, amphiphysin antibodies) and anti-cell surface antigen antibody encephalitis [anti-N-methyl-D-aspartate receptor (NMDAR), leucine-rich glioma inactivating protein 1 (LGI1), GABA receptor, α-amino-3-hydroxy-5-methyl-4-isoZolpropionate receptor (AMPAR), contact protein-associated protein 2 (CASPR2) antibody, etc.]. In addition to the common memory loss, abnormal mental behavior and epileptic seizures, the clinical manifestations of anti-CV2AE are more common with abnormal dance-like movement, and a few can see Parkinson's disease-like symptoms. At present, there are less than 30 cases of anti-CV2AE reported abroad, and there are few reports in China. The clinical data of a case of anti-CV2AE patient who attended our hospital involving striatum and brainstem and underwent brain tissue biopsy (referred to as biopsy) are reported as follows, and the relevant literature is summarized and analyzed.

Danon's disease is a rare and fatal X-linked dominant genetic disorder^[1,2], once named X-linked vacuolar skeletal muscle cardiomyopathy or lysosomal glycogen storage disease with normal acid maltase, was first developed in 1981 by Danon et al.^[3]Reported, in 2000 by Nishino et al.^[4]It was confirmed that the pathogenic gene was lysosome-associated membrane protein 2 (LAMP2) gene. The main clinical manifestations of Danon's disease are hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. The pathological characteristics are that glycogen particles accumulate in the cytoplasm of myocardium and skeletal muscle to form spider web-like membranous autophagy lysosomes^[5,6]。 Due to the rarity of Danon's disease, there are few reports of this disease in China at present. A typical case of Danon's disease is reported, and its clinical, pathological and genetic changes are analyzed.

Alzheimer's disease (AD) is the most common type of dementia in the elderly population. Studies have shown that pathophysiological changes have occurred in patients with AD symptoms for several years or even decades^[1,2,3]。 The identification of pathophysiological biomarkers can be used for disease diagnosis and monitoring of disease progression, and it plays an important role in monitoring adverse drug reactions and developing new drugs^[4]。 In the IWG-2 diagnostic criteria proposed by the International Working Group (IWG) in 2014, it is emphasized that clinical symptoms should be combined with biomarkers for AD diagnosis^[5]。 Existing biomarkers mainly used for AD diagnosis mainly include β-amyloid (A β) and tau protein in cerebrospinal fluid, cerebral amyloid deposition PET (amyloid-PET), and autosomal dominant mutations in familial AD. However, due to the characteristics of invasiveness, time-consuming and high cost, these tests are limited in clinical application. Therefore, the research of biomarkers in peripheral blood of AD has become a hot spot in recent research.

Alzheimer's disease (AD) is one of the most common disabling and fatal neurodegenerative diseases in old age. The main manifestations of this disease are concealed onset and progressively aggravated cognitive dysfunction, which ultimately leads to loss of social function and death^[1]。 Typical intracerebral pathological changes of this disease include amyloid β-protein (A β) deposition, neurofibrillary tangles (NFT), synaptic damage and neuronal degeneration. Among them, synaptic damage and neuronal degeneration constitute the important pathological basis of AD cognitive dysfunction. The pathogenic factors of AD are an important topic in neuroscience and neurology at present. Although genetic factors are closely related to the onset of some AD patients, especially familial AD, the cause of sporadic AD, which is a high proportion of AD patients, is still unclear^[1]。 A large amount of evidence suggests that sporadic AD has multiple organ and system changes^[2]Therefore, the role of systemic risk factors in AD, especially sporadic AD, has gradually been paid attention to.

Parkinson's disease psychosis (PDP) is one of the common non-motor symptoms of Parkinson's disease^[1,2]In the past 10 years, it has attracted the attention of scholars. For the first time in China, we comprehensively reviewed the diagnosis, epidemiology, pathogenesis, clinical manifestations and treatment status of PDP, so as to enhance the understanding of PDP.

Myasthenia gravis (MG) is a class of acquired autoimmune diseases mediated by antibodies, cellular immune-dependent, and complement-involved^[1]With the progression of the disease, the respiratory muscles can be gradually involved, causing impairment of ventilation function, which can progress from early sleep-disordered breathing (SDB) to hypopnea at night and during the day, and even respiratory failure. However, because the process is relatively slow, it is not easy to attract the attention of doctors and patients, which leads to an increase in the mortality rate of MG caused by respiratory failure^[2]。 Therefore, understanding the clinical characteristics of MG combined with SDB, early recognition and appropriate intervention can effectively improve patients' sleep and quality of life, and reduce the mortality rate of respiratory failure. The research progress of MG SDB is summarized as follows.