2016年 · 第49卷第11期

In clinical practice, severe cognitive impairment affecting work, life and social ability is called dementia in English and dementia in Chinese. dementia is a widespread brain disease caused by a long-term, gradual decline in thinking and memory that affects an individual's daily function (Dementia, is a broad category of brain diseases that cause a long-term and often gradual decrease in the ability to think and remember that is great enough to affect a person's daily functioning)^[1]。 However, dementia has the meaning of idiot and silly in Chinese, which is obviously derogatory and undermining the dignity of patients, making it difficult for patients and their families to accept it.

lysinuric protein intolerance (LPI), a rare autosomal recessive disease, was first reported in Finland in 1965^[1], is a subtype of urea cycle disorder. The disease is endemic in Finland, with an incidence of 1/76 000, and cluster incidence has also been reported in Italy and southern Japan^[2]However, domestic reports are rare at present. One case we will treat is reported below.

Primary systemic amyloidosis (AL) is a disease involving multiple systems such as kidney, heart, digestion and nerves. Most patients have clinical manifestations such as fatigue and weakness, edema of both lower limbs, proteinuria, chest tightness, shortness of breath and peripheral neuropathy. Patients with simple autonomic nervous insufficiency as the main clinical manifestation have not been reported in China. We will report 1 case collected as follows.

Diabetic non-ketotic hyperglycemia can lead to a variety of neurological damage, and when complicated by dyskinesia, it is often manifested as hemichorea and characteristic changes of the contralateral striatum. Previously considered MRI T₁High-intensity image and high-density CT plain scan are the specific changes of this complication^[1]However, it has been found in recent years that patients with this imaging appearance do not necessarily have chorea^[2,3]A case with epileptiform seizures as the first symptom and striatal lesions is reported below.

systemic lupus erythematosus (SLE) involving the central nervous system is called neuropsychiatric systemic lupus erythematosus (NPSLE) or lupus encephalopathy. About 1% to 2% of SLE involve the spinal cord^[1]It can be divided into two types: transverse inertial myelitis and longitudinal myelitis, the latter of which is a rare type. SLE involving medulla oblongata is rare in clinical practice, and no exact incidence report has been found in domestic and foreign literatures. Up to now, only a few domestic literatures have reported SLE involving medulla oblongata^[2,3]。 A case of SLE diagnosed and treated in our hospital with the first onset of medullary lesion is reported as follows.

malformation of cortical development (MCD) is a general term for a group of diseases with abnormal development of the cerebral cortex caused by genetic, physical and chemical factors, infection and other factors, with epilepsy and mental retardation as the main clinical manifestations. The recognized classification is mainly divided into three groups: (1) malformations caused by abnormal development of neurons and glial cells in this stage of proliferation, differentiation and apoptosis, mainly including microcephaly, cortical dysgeneses with abnormal cell proliferation and megalencephalies; (2) malformations caused by abnormal migration of nerve cells, mainly including lissencephaly and heterotopia; (3) Deformities caused by abnormal development after migration: mainly including polymicrogyria (PMG), most focal cortical dysplasia (FCD), schizencephaly, etc.^[1]。 At present, there are still great difficulties in the treatment of MCD. According to related reports^[2]A large part of intractable epilepsy is caused by MCD, and it is especially prominent in childhood. Therefore, exploring the mechanism of MCD and finding a breakthrough for its treatment has become a hot spot for scholars at home and abroad. Reelin signaling pathway, as a crucial pathway in the mechanism of MCD, has attracted much attention from scholars. A large number of studies have confirmed that Reelin is mainly involved in the migration, localization and cortical plate formation of neurons in the development of central nervous system^[3]。 Recent studies^[2,4]It was also found that the occurrence of diseases such as anencephaly, gray matter heterotopia (GMH), focal cortical dysplasia, and cerebellar hypoplasia are also related to the abnormality of Reelin signaling pathway. It is summarized as follows:

neurodegenerative diseases (NDD) are a group of chronic progressive neurological diseases of unknown origin based on neuronal degeneration, including Parkinson's disease, Alzheimer's disease (AD), Huntington's disease, motor neuron disease (MND), etc. In recent years, the role of neuroinflammatory reaction in the pathogenesis of NDD has been paid more and more attention, and it is a research hotspot in related fields. translocator protein (TSPO) is highly expressed in activated microglia during neuroinflammation, and has been recognized as a biomarker of brain inflammation. Noninvasive monitoring and tracking of neuroinflammation can be performed by positron emission computed tomography (PET) using radioligand of TSPO. TSPO is also highly expressed in many NDDs, which provides further clues for studying the association between neurodegeneration and neuroinflammation, and also makes it a new direction for studying the etiology and treatment of NDD. We focus on the close relationship between TSPO, neuroinflammation and NDD, and review the research progress of TSPO in NDD.

The ATP1A3 (sodium/potassium-transporting ATPase subunit alpha-3 isoform 3) gene, located at 19q13.2, encodes the α 3 subunit of the sodium-potassium adenosine triphosphate (ATP) pump and is the most important α subunit in the neuronal sodium pump. It was found that ATP1A3 gene mutation is closely related to rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). However, the specific mechanism of ATP1A3 gene mutation causing these two diseases is still unclear. We will provide an overview of the ATP1A3 gene and an introduction to the neurological disorders associated with mutations in the ATP1A3 gene – RDP and AHC.

Cerebrovascular disease has become the first cause of death in the country, among which stroke is the single disease with the highest disability rate^[1]。 According to domestic and foreign research, stroke can be prevented and controlled; Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease. 60% of coronary atherosclerotic heart disease and 40% of ischemic stroke are caused by long-term elevation of low density lipoprotein cholesterol (LDL-C)^[2]。 At present, statins are still the main force in reducing LDL-C in clinic, but even if the maximum recommended dose of statin treatment is given, 60% to 70% of patients still have LDL-C that does not reach the ideal level^[3]。 In addition, some patients are intolerant to high-dose statins or have difficulty taking adequate doses due to adverse reactions (such as myalgia and rhabdomyolysis, etc.). Therefore, it is of great significance to develop new hypolipidemic drugs for these patients to choose from for the prevention and treatment of cardiovascular diseases. proprotein convertase subtilisin/kexin type 9 (PCSK9) is currently a new target for lowering lipid, so PCSK9 inhibitors provide us with a new treatment mode against LDL-C following statin drugs. Therefore, we review the research status and progress of new lipid-lowering target PCSK9 and current PCSK9 inhibitors.

On July 7-9, 2016, the 9th National Conference of Young and Middle-aged Neurology of Chinese Medical Association was held in Nanjing Metropark Hotel. The conference was sponsored by Chinese Medical Association and Neurology Branch of Chinese Medical Association, undertaken by the Youth Committee of Neurology Branch of Chinese Medical Association and Jiangsu Medical Association, and co-organized by Nanjing Brain Hospital, Neurology Professional Committee of Jiangsu Medical Association and Neurology Specialist Branch of Nanjing Medical Association. Professor Pu Chuanqiang, chairman of the Neurology Branch of Chinese Medical Association, served as the chairman of the conference, and Professor Wang Xiaoshan, Wang Yanjiang, Zhu Yicheng and Jiang Wen, deputy chairmen of the Youth Committee of the Neurology Branch of Chinese Medical Association, served as the executive chairmen. Famous experts and scholars at home and abroad, such as Neurology Branch of Chinese Medical Association and Jiangsu Medical Association, attended the meeting, including Professor Jia Jianping, former chairman of Neurology Branch of Chinese Medical Association, Professor Cui Liying, chairman-designate, and all young members. This conference was completely planned and organized by the Youth Committee of Neurology, and was chaired by young experts and colleagues themselves. It made speeches at the conference, conducted academic discussions, introduced the latest progress in the field of clinical and basic research in neurology in recent years, and discussed hot issues. Especially during this conference, the evening time was used to add "expert face-to-face" clinical case discussion content, highlighting the purpose of academics serving the clinic.