2015年 · 第48卷第09期

Imaging changes are the main basis for clinical diagnosis of white matter lesions. With the development and popularization of gene technology, enzyme detection technology, neuropsychological assessment and other detection methods, people's understanding of white matter lesions is gradually improved. Combined with the retrospective pathological analysis of the white matter lesions confirmed by imaging, we still suggest that the process of clinical occurrence and development of the disease is the most reliable basis for correct diagnosis.

familial fatal insomnia (FFI) is a rare autosomal dominant prionopathy, which is typically characterized by sleep disorders, with automatic behaviors accompanied by complex hallucinations and vivid dreams during sleep, and autonomic dysfunction, endocrine changes, movement disorders and cognitive dysfunction. Consistent with other prionopathies, FFI usually has no obvious abnormal signal on conventional magnetic resonance sequences. A case of FFI with abnormal white matter signals was reported.

Reversible posterior leukoencephalopathy syndrome (RPLS) is the reason why Hinchey et al.^[1]A new clinical imaging syndrome proposed in 1996, with lesions involving mostly the parieto-occipital and posterior frontal lobes, only the basal ganglia or brainstem, is called central variant RPLS^[2,3], clinically relatively rare. One case we treated is now reported as follows:

Anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor encephalitis is a newly discovered anti-neuronal surface antigen autoimmune encephalitis. Related reports are extremely rare. Only 16 patients were reported before 2014^[1]。 A case of anti-AMPA receptor antibody encephalitis admitted to Jing' an District Central Hospital in Shanghai is reported as follows.

Parkinson's disease withdrawal malignant syndrome specifically refers to a series of life-threatening characteristic reactions in the body after rapid withdrawal of Parkinson's disease drugs, including mental behavior abnormalities, myotonia and autonomic dysfunction. The syndrome can be caused by a sudden decrease, sudden arrest, or rapid change between drugs of dopaminergic drugs (such as levodopa, dopamine receptor agonists, etc.), or even a decrease in the dosage of drugs without direct dopaminergic activity, such as amantadine and trocapone^[1,2,3]。 In recent years, there have been related reports in China^[4]It is mostly caused by the withdrawal of levodopa, while amantadine withdrawal causes this syndrome rarely reported^[5]。

Abnormal embolism refers to the thrombus of the venous system and right atrium entering the left cardiac system from the right cardiac system through abnormal channels in the heart and/or lungs, causing ischemic stroke and cardiac, renal and peripheral system embolism. It is common in patients with deep venous thrombosis of lower limbs and patent foramen ovale. However, abnormal embolism caused by transpulmonary arteriovenous fistula, especially in patients with first onset, is difficult to diagnose^[1]。 Transcranial Doppler ultrasound (TCD) foaming test is an ideal method for diagnosing abnormal embolism, especially in young and middle-aged patients with cryptogenic stroke^[2]。 The case we report is the first onset of abnormal cerebral embolism caused by pulmonary arteriovenous fistula.

Susac syndrome (Susac syndrome) by Susac et al.^[1]Two cases were first reported in 1979, characterized by a clinical triad: multifocal encephalopathy, branch retinal artery occlusion and low-to-medium frequency sensory deafness. Its pathogenesis may be infarction of small blood vessels of brain tissue, retina and cochlea caused by vascular endothelial cell damage mediated by autoimmune response. Nervous system damage was more common in corpus callosum, followed by periventricular, semi-oval center, thalamus, brainstem and cerebellum, and spinal cord damage was rarely reported^[2]。 We report a case of Susac syndrome with cervical spinal cord disease and successive bilateral central retinal artery occlusion in order to improve clinicians' understanding of the disease.

leukoaraiosis (LA) is an important component of cerebral small vessel disease (SVD). It refers to spotty or patchy changes in the white matter paraventricular or subcortical, which appear as low density on CT and MRI T₂The weighted image showed a high signal change. European multicenter prospective Study, the Leukoaraiosis and Disability Study (LADIS) Study, showed that^[1]LA is an independent risk factor for the decline of living capacity in the elderly, and can lead to stroke and depression^[2]Cognitive dysfunction and even dementia^[3]The occurrence has become a hot topic of current research.

amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving both upper and lower motor neurons. It occurs more often in middle age. It is characterized by progressive weak atrophy, dysarthria, dysphagia, active tendon reflex, pyramidal tract sign and fascicular tremor. At present, there is no specific treatment. About 50% of patients die of respiratory failure within 3 to 5 years of onset^[1]。 ALS can be divided into sporadic ALS (sALS), accounting for about 90% of the total; familial amyotrophic lateral sclerosis (fALS) accounts for about 10%. The copper (zinc) superoxide dismutase 1 (SOD1) gene is the first gene found to cause fALS^[2]20% ~25% of fALS and 3% ~7% of sALS are related to this gene mutation^[3,4]。 With the discovery of new pathogenic genes such as TAR DNA binding protein (TARDBP) gene and sarcoma fusion gene^[5,6]More and more attention has been paid to molecular genetics in the study of the pathogenesis of ALS, and the research on its pathogenic mechanism is gradually in depth. 2010, Maruyama et al.^[7]Three types of optineurin (OPTN) gene mutations were first found in Japanese patients with ALS, and this gene mutation was first found to be related to primary open-angle glaucoma (POAG)^[8]。 Subsequently, two more studies^[9,10]A mutation in the OPTN gene was detected in fALS and sALS patients of European ancestry, which was identified as a pathogenic associated gene for ALS. We will review the characteristics of the OPTN gene and its distribution in different races, the pathological features and clinical manifestations of patients with mutations, and its role in the pathogenesis of ALS.

The nervous system is composed of hundreds of millions of neurons with different shapes and functions, and they are connected with each other through axons and dendrites, forming neural circuits with different functions. For many years, neuroscientists have been working on the causal relationship between these neurons, neural circuits and behavior or performance. Although remarkable progress has been made in some aspects, we are still far from fully understanding the working mechanism of the brain. One of the reasons is the lack of a technology that can selectively stimulate or inhibit the activity of specific nerve cells. Although extracellular electrical stimulation has a certain time accuracy, it is not easy to achieve true neuronal inactivation or electrical excitation, and lacks cell type specificity; Pharmacological and genetic manipulations are specific for certain expression patterns of cells but lack temporal accuracy for neural coding and signaling^[1]。 As early as 1979, Professor Crick suggested that one of the major challenges facing neuroscience was the need to precisely control one type of cellular activity, and speculated that this goal might be achieved through light-controlled regulation^[2]。 Later, related studies have shown that some microorganisms can produce photosensitive proteins that regulate the flow of ions across membranes^[3]。 In 2005, Boyden et al.^[4]For the first time, the microbial photosensitive protein gene was introduced into mammalian neurons, and the action potential of neurons was accurately controlled by light stimulation, with a time accuracy of up to milliseconds. The technique was subsequently referred to as "optogenetic technique", and in 2010 wasNature MethodsSelected as "Method of the Year"^[5]。 In 2013, scientists such as Deisseroth, who have made outstanding contributions to optogenetics technology, were awarded the "European Brain Award"^[6]。 Nowadays, optogenetics technology has been widely used in neuroscience and related fields^[7,8]。

Epilepsy is one of the common chronic diseases of the nervous system. Epileptic seizure symptoms and their comorbidities seriously affect patients' health and bring great losses to society and families. Seeking its pathogenesis is helpful to formulate targeted diagnosis and treatment plans. At present, it is believed that an increase in excitatory transmitters represented by glutamate or a decrease in inhibitory transmitters mainly by gamma aminobutyric acid (GABA) will increase nervous system excitability and promote epileptic seizures. The changes of central nervous system GABAergic pathway play an important role in the development and development of epilepsy has been paid more and more attention.

Dizziness or dizziness is one of the most common clinical symptoms, involving neurology, otolaryngology, neurosurgery, orthopedics, geriatrics, ophthalmology, internal medicine and psychiatric psychology and other disciplines. Due to the specialization of clinical disciplines or the fragmentation of multidisciplinary connections, patients with dizziness or vertigo move to multiple clinical departments, which increases the expense and mental burden of patients. In recent years, vertigo or dizziness has become a hot spot in clinical and basic research. Multidisciplinary cooperation in diagnosis and treatment of vertigo or dizziness is about to become a trend and necessity. Neurologists and otolaryngologists bear the responsibility for the diagnosis and treatment of most patients with vertigo or dizziness. Due to habitual understanding, most patients with vertigo or dizziness will be first diagnosed in neurology clinics and their emergency departments, and most diseases are related to peripheral vertigo common in otolaryngology. Due to the different distribution of disease populations, related disease specialties and examination instruments in different departments, doctors in different specialties urgently need to know the diagnosis and treatment process and examination results of patients in different departments, so as to improve the diagnosis and treatment level and referral efficiency. In otorhinolaryngology, the common vertigo disorders are benign paroxysmal positional vertigo (otolithiasis), Meniere's disease and vestibular neuritis, which together account for more than 80% of outpatient patients with peripheral vertigo. This article expounds vertigo or dizziness from the perspective of otolaryngologists, so that clinicians can understand the clinical characteristics, diagnosis and treatment status and current research hotspots of common peripheral vertigo diseases, and provide further diagnosis and treatment experience for neurologists.