2017年 · 第50卷第11期

Parkinson's disease (Parkinson's disease) is the second largest neurodegenerative disease that harms the health of middle-aged and elderly people, and its prevalence increases with age. In addition to motor symptoms such as quiescent tremor and bradykinesia, patients with Parkinson's disease will also have neuropsychiatric symptoms such as depression and memory impairment, as well as autonomic dysfunction such as constipation and increased nocturia, sleep disorders, sensory disorders, etc., collectively referred to as "non-motor symptoms" (NMS). Epidemiological research data show that almost all patients with Parkinson's disease will have different degrees and types of NMS before and after the onset of motor symptoms, which will have a significant impact on their quality of life. For more than 10 years, specialists have gradually paid more attention to NMS in Parkinson's disease. However, compared with the motor symptoms of Parkinson's disease, clinicians' recognition rate and diagnosis rate are still low, and their understanding is still not comprehensive. At present, there are not many targeted drugs for NMS, and patients' satisfaction with NMS control is not high. Therefore, how to correctly identify, evaluate and intervene NMS has become the focus and difficulty of the diagnosis and treatment of Parkinson's disease. We will build on the previous preliminary understanding of NMS in Parkinson's disease^[1]The significance and influence of NMS in different stages of the disease were analyzed and discussed.

Since 2010, the Neurology Branch of Chinese Medical Association and the Editorial Board of Chinese Journal of Neurology^[1]Since organizing experts to discuss and reach a consensus on the related issues of vertigo diagnosis and treatment, the level of vertigo diagnosis and treatment in China has made great progress. Everyone's understanding of vertigo has gradually become clear, and the diagnosis and treatment plans have become increasingly standardized. With the deepening of clinical practice and the update of related theories, some new problems have gradually appeared. These problems require us to combine the relevant progress at home and abroad in recent years, and review the "Expert Consensus on Diagnosis and Treatment of Vertigo" published 7 years ago^[1]Make appropriate updates.

Anti-gamma-aminobutyric acid-B receptor (GABA_BR) encephalitis is a type of autoimmune encephalitis (AE), with clinical features of epileptic seizures, near-memory loss, and abnormal mental behavior. Some patients are complicated with tumors, and small cell lung cancer is the most common. GABA_BR is located on the cell surface and is an inhibitory synaptic receptor that mediates presynaptic inhibition through at least two pathways: exciting influx-type potassium channels coupled to G protein receptors to hyperpolarize neurons; Inhibition of calcium ion channels. GABA_BR can also mediate postsynaptic inhibition in a similar way, by reducing the presynaptic firing frequency and inhibiting the synchronous electrical activity of neurons, thus impairing the learning and memory ability of patients^[1,2,3,4,5]。 Immunotherapy against GABA_BR encephalitis, especially in patients without concomitant tumors, responds better to treatment. We summarized the anti-GABA admitted to our hospital_BThe clinical characteristics, laboratory tests, EEG and imaging data of patients with R encephalitis, and follow-up observations were carried out to summarize their prognosis, so as to provide clinicians with diagnosis and treatment of anti-GABA_BR encephalitis provides reference.

hepatolenticular degeneration (HLD), also known as Wilson's disease, is an autosomal recessive disorder of copper metabolism. The worldwide incidence of Wilson's disease is 1/30,000 to 1/100,000^[1]。 Due to the abnormal deposition of copper at different sites, the patient clinically manifested as progressive aggravation of multi-system damage, mainly cirrhosis, extrapyramidal symptoms, renal damage and keratopathy. Because HLD is one of the few treatable genetic metabolic diseases, early diagnosis is very helpful for clinical treatment and prognosis. MRI is of great significance for early detection of Wilson's disease. The rare MRI findings of a patient with hepatolenticular degeneration are reported below.

Extreme posterior zone syndrome refers to refractory hiccups or nausea and vomiting that cannot be explained by other causes. The extreme posterior region, also known as the final region, is located on both sides of the fourth ventricle and above the latch. It is a chemoreceptor excitation region related to vomiting. This part of the blood-brain barrier has strong permeability, so it can sensitively sense the changes of chemicals in the blood. However, astrocytes in this area are rich in aquaporin 4 (AQP4) antigen, so they are easy to become the site of AQP4 antibody damage. Neuromyelitis optica spectrum disease (NMOSD) combined with primary Sjogren's syndrome (PSS) with extreme posterior zone syndrome as the first symptom is rarely reported. One case diagnosed and treated in our hospital is reported as follows.

acute invasive fungal rhino-sinusitis (AIFRS) is a specific infectious disease characterized by fungal invasion of sinus mucosa, soft tissue, bone and blood vessels, causing multiple organ damage. It mostly occurs in people with low or deficient immune function (such as malignant tumors, diabetes, HIV infection, organ transplantation, long-term immunosuppressant use, etc.); Because the course of the disease mostly does not exceed 4 weeks, the onset of the disease is sudden, the disease progresses rapidly and dangerously, and the mortality rate is high, it is also called explosive fungal sinusitis (acute fulminant fungal sinusitis)^[1,2]。 Although many cases of complicated intracranial lesions have been reported at home and abroad, acute occlusion of bilateral internal carotid artery is relatively rare. One case of AIFRS admitted to our hospital is reported as follows.

lipid storage myopathy (LSM) is a group of metabolic myopathies caused by the deposition of lipids in muscle fibers caused by defects in mitochondrial fatty acid transport and beta oxidation^[1]The main clinical manifestations are progressive aggravation of muscle weakness and exercise intolerance. Statin-associated myopathy generally refers to any muscle symptoms associated with taking statins. We report a patient with "proximal muscle weakness of both lower limbs" as the first manifestation and investigate the relationship between statin-associated myopathy and LSM for the first time for clinical reference.

the face of the giant panda sign was first developed by Hitoshi et al.^[1]A characteristic neuroimaging alteration proposed in Wilson's disease in 1991 refers to bilateral abnormal signals of tectal symmetry in the midbrain with normal red nucleus signals. This classic MRI sign has been reported in brainstem infarction, Leigh disease, metronidazole encephalopathy, and cysticercosis granuloma^[2,3,4,5]。 A patient with Epstein-Barr virus-associated encephalitis who met the imaging features of this syndrome and clinically manifested as Parkinson's syndrome admitted to the Department of Neurology of Shandong Provincial Hospital is reported below.

Alzheimer's disease (AD) is a progressive neurodegenerative disease with cognitive impairment and memory impairment as the main clinical manifestations. It is the most common manifestation of senile dementia. The World Alzheimer's Disease 2016 Report shows that there are currently about 53 million AD patients in the world, and one new AD patient will be added every 33 seconds^[1]。 As the average life expectancy of the global population increases, the incidence of AD in the world continues to rise with age, and it is expected to increase at a rate of 2 times. In 2050, more than 120 million people will be affected by it.

As an important microtubule-associated protein in nervous system, tau plays an important role in the pathogenesis of many types of dementia. Under pathological conditions, abnormally phosphorylated tau protein will affect the normal physiological function of tau protein, which will separate from microtubules, decompose microtubules, and aggregate superphosphorylated tau protein to form neurofibrillary tangles (NFTs), causing a series of pathological damages^[1,2]。 Alzheimer's disease (AD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB), and Parkinson disease with dementia (PDD) Pathological changes of tau protein can be seen in various neurodegenerative diseases with dementia symptoms, which are collectively referred to as tau diseases^[3]。 It is currently believed that the different clinical manifestations of tauopathy may be related to the structure and different deposition sites of pathological tau protein^[3]Moreover, tau protein lesions appear earlier than the clinical symptoms of dementia, and there is a close relationship with the severity of cognitive impairment in patients^[4]。 Therefore, the early localization diagnosis of pathological tau protein in the brain of patients is of great significance. In the past, the diagnosis of tauopathy mainly relied on invasive detection methods. In recent years, with the development of positron emission tomography (PET), scholars have begun to use selective PET imaging technology targeting tau protein to detect tauopathy in the brain at the in vivo level^[5,6,7]And found that it plays an important role in the early diagnosis, differential diagnosis, efficacy monitoring, pathogenesis and brain cognitive function research of many types of dementia diseases. We reviewed the clinical application of selective tau protein PET imaging in different types of dementia.

Amyotrophic lateral sclerosis (ALS) is a chronic progressive neurological disease with prominent manifestations of degeneration of upper and lower motor neurons. It is characterized by muscle weakness and atrophy, bulbar paralysis and pyramidal tract signs, and sensory and autonomic functions are usually unaffected. The onset age is mostly 30-60 years old, and most of them are over 45 years old. The average age of onset of ALS patients in China is about 49.8 years old, with more males than females, and the prevalence ratio is about 1.7:1^[1]。 The etiology of ALS is unknown, and patients mostly die of respiratory muscle paralysis or pulmonary infection within 3 to 5 years. About 10% of ALS patients have a family history of familial amyotrophic lateral sclerosis (FALS), which can be inherited in autosomal dominant, autosomal recessive or with X chromosome, and the rest are sporadic, called sporadic amyotrophic lateral sclerosis (SALS)^[2,3]。 In recent years, with the progress of genome-wide association research and second-generation sequencing technology, as well as the development of molecular biology, the genetic research of ALS has made many progress.

amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that mainly involves the cerebral cortex, pyramidal system, brainstem motor nuclei and lateral cords of the spinal cord. The clinical manifestation is the simultaneous involvement of upper and lower motor neurons. The prognosis is poor, and the average survival time is only 3~5 years. At present, the pathogenesis and etiology of this disease are not completely clear. Since the mutation of superoxide dismutase 1 (SOD1) gene was reported in 1993, new pathogenic genes of ALS have been discovered almost every year. The mutation mechanism mainly involves protein dynamic balance disorder, abnormal RNA processing, cytoskeleton destruction, and then leads to neuronal death through endoplasmic reticulum stress, abnormal autophagy, proteasome excitotoxicity, and abnormal axoplasmic transport^[1]。 In the past 3 years, researchers have reported a total of 7 new ALS pathogenic genes (Table 1)^{[2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26]}And clinical genetic testing for ALS patients is becoming more and more extensive. Therefore, we summarize the main genetic progress of ALS in the past three years and the current problems faced by the detection of ALS pathogenic genes as follows.

Parkinson's disease is a common neurodegenerative disease characterized by substantia nigra dopaminergic neuronal degeneration, deletion, and Lewy body shape. cognitive dysfunction is one of the common nonmotor symptoms in patients with Parkinson's disease. cognitive dysfunction in Parkinson's disease includes Parkinson's disease with mild cognitive impairment (PD-MCI) and Parkinson's disease with dementia (PDD). When a patient with Parkinson's disease develops slowly progressing cognitive impairment 1 year after onset, and this cognitive impairment is sufficient to affect the patient's ability to live daily life, it is called PDD. PD-MCI refers to a group of cognitive dysfunction syndromes caused by Parkinson's disease that have little impact on daily life function and do not progress to PDD. Early detection of PD-MCI is of great significance for the prevention and treatment of PDD. Compared with the treatment of motor symptoms in Parkinson's disease, there is still a lack of clear and effective treatment for cognitive dysfunction in Parkinson's disease. There is also a lack of large randomized double-blind controlled trials for the treatment of PDD and PD-MCI. In the past 10 years, the cholinesterase inhibitor rivastigmine has been the only proven effective drug for the treatment of cognitive dysfunction in PDD^[1]However, there are few reports on the reliability of drug and non-drug treatments for PD-MCI. Therefore, we reviewed the recent literature on the treatment of PD-MCI with the aim of exploring the best treatment protocol for PD-MCI.