2016年 · 第49卷第08期

electrodiagnosis, which mainly refers to nerve conduction measurement and needle electromyography, has played an important role in the diagnosis, differential diagnosis, efficacy evaluation and prognosis of neuromuscular diseases for a long time. Since its establishment, the Electromyography and Clinical Neurophysiology Group of Neurology Branch of Chinese Medical Association has been devoted to the standardization and promotion of electrodiagnostic technology, and has made certain achievements. With the continuous improvement of the quality of electromyography and neuroelectrophysiology practitioners in China, the proportion of neurologists engaged in electrodiagnosis has also increased obviously, and the application of electromyography in the diagnosis of neuromuscular diseases has also begun to be paid attention to. In 2015 alone, the EMG and Clinical Neurophysiology Group jointly organized relevant experts to write and discuss, and formulated six guidelines or consensus on the diagnosis and treatment of neuromuscular diseases, including glycogen storage diseases^[1]Mitochondrial disease^[2]Lipid deposition myopathy,^[3]Pseudohypertrophic muscular dystrophy^[4]Polymyositis^[5]And idiopathic facial nerve palsy^[6]And revised the 2008 consensus on standardized detection and clinical application of electromyography and the treatment guidelines for amyotrophic lateral sclerosis (ALS)^[7]。 At the beginning of May 2016, more than 500 people attended the 14th National Conference on Electromyography and Clinical Neuroelectrophysiology held by the Neurology Branch of Chinese Medical Association in Wuhan, more than 50% of whom were clinicians. The conference received 234 manuscripts, of which more than 50 were made special speeches and paper exchanges, which were very rich in content. At this conference, the combination of electrodiagnosis and ultrasound imaging is a prominent highlight.

Citations are an important part of scientific papers. Thesis citation analysis has become an important method of subject dynamic research, it is one of the main methods to evaluate the core journals of subject, and it can reflect the absorption ability and penetration, publishing quality and academic influence of professional journals. The quantity of citations is an important indicator to reflect the author's ability to absorb the existing academic research achievements and the latest information. The greater the number of citations indicates that the author draws on other people's achievements and uses the literature more extensively^[1]。 Citation analysis reflects the quality and level of papers to a certain extent, but also the level of journals. Therefore, knowing and grasping the citation rules of journal papers is of great significance to evaluate the academic influence of journals and papers and reflect the academic authenticity. By studying the distribution of citations according to literature types, we can understand the literature sources and knowledge composition of journal authors, and determine the information value and status of various literature carriers and their utilization^[2]。

Cardiogenic embolus detachment can cause extensive arterial embolism. Cerebral embolism is the most common in neurology, and arterial embolism of one limb is also common, but acute paraplegia caused by abdominal aortic embolism caused by embolus detachment is rare. A case of acute paraplegia caused by high abdominal aortic embolism caused by left atrial embolus detachment in our hospital is reported, so as to strengthen the understanding of rare manifestations of this common disease.

Tubular visual field is common in patients with glaucoma. It is mostly due to primary open-angle glaucoma with insidious symptoms and slow development, chronic closed-angle glaucoma without timely diagnosis and treatment, or high intraocular pressure that cannot be controlled by drugs, which causes the centripetal reduction of the visual field to form a tubular visual field^[1]。 One case we treated is now reported as follows.

contactin associated protein-like 2 (CASPR2) is a member of the superfamily of axonal proteins highly expressed in the hippocampus, cerebellum and peripheral nerves. Together with anti-leucine-rich glioma inactivating 1 protein, it constitutes a voltage-gated potassium channel complex antigen. CASPR2 antibody positive patients can present with borderline encephalitis, peripheral neuropathy, and Morvan's syndrome, and such patients respond well to immunotherapy^[1,2,3]。 At present, there is a lack of comprehensive reports on this disease in China^[4]Here we report the clinical, imaging and electrophysiological characteristics of a CASPR2 antibody positive patient, combined with literature review, in order to strengthen the further understanding of this disease.

neuronal ceroid lipofuscinoses (NCLs) are a group of hereditary lysosomal storage diseases, belonging to the degenerative diseases of the nervous system, which are mainly manifested by progressive motor, mental decline, vision loss and intractable epileptic seizures. Most patients begin in childhood, but are rarely seen in adults^[1,2,3]。 Clinically, they are often classified according to the onset age and the order of clinical characteristics, mainly infant type (INCL), late infant type (LINCL), adolescent type (JNCL) and adult type (ANCC). We observed the appearance of peripheral blood smear and frozen skeletal muscle sections under fluorescence microscope in a patient with classical JNCL diagnosed by electron microscope and gene, so as to explore the rapid screening and diagnosis method of NCLs.

bow hunter's syndrome (BHS), also known as rotating vertebral artery occlusion syndrome, is caused by Sorensen^[1]It was first proposed in 1978 when describing Wallenberg syndrome caused by a hunter turning his head to shoot an arrow. At present, it is limited to a small number of case reports and some small sample studies^[2,3]。 A case of BHS admitted to our hospital is reported as follows.

Parkinson's disease is a neurodegenerative disease characterized by the loss of dopaminergic neurons in the substantia nigra density and noradrenergic neurons in the macula coerulea, and the formation of Lewy bodies^[1,2,3]。 Due to the degeneration of neurons in the dense part of substantia nigra, the amount of dopamine in the striatum decreases, and the motor dysfunction of the basal ganglia leads to motor symptoms such as bradykinesia, while the decrease of noradrenergic neurons in the frontal cortex, brainstem, hypothalamus and other regions is the result of neuronal degeneration in the macula coerulea, which can lead to non-motor symptoms such as autonomic symptoms (hyperhidrosis) and other symptoms (depression, sleep disorders)^[2,4,5]。 To date, the diagnosis of Parkinson's disease mainly depends on clinical manifestations and response to dopa replacement therapy. However, the drawback of this approach is that it takes a long time to validate and the diagnosis rate is not high^[6,7]。 In addition, the typical symptoms of Parkinson's disease can also be seen in multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and other Parkinson's disease superposition syndromes. At this time, it is difficult to distinguish by clinical manifestations alone^[7]。 Therefore, we need auxiliary means to help differential diagnosis. Magnetic resonance imaging (MRI) is one of the most effective auxiliary examinations, especially the new technologies that have emerged in recent years. They can detect early lesions in patients with Parkinson's disease, thus contributing to the early and correct diagnosis of Parkinson's disease patients. We will review the advances of new MRI techniques in the diagnosis of Parkinson's disease.

paroxysmal dyskinesia (PxDs) is a group of heterogeneous neurological diseases caused by different etiologies. Mount and Samuel^[1]A case of "paroxysmal choreoathetosis" was first reported in 1940. 1995 Demirkiran and Jankovic^[2]It was renamed "paroxysmal nonkinesigenic dyskinesia (PNKD)" and is still used today. 1967 Kertesz^[3]A class of movement-induced dyskinesia is reported, which is named paroxysmal kinesigenic choreoathetosis (PKC). 1977 Lance^[4]paroxysmal exercise-induced dyskinesia (PED) has been reported. 1981, Lugaresi and Cirignotta;^[5]First, a case of paroxysmal dyskinesia occurring during night sleep was reported, and it was named as hypnogenic paroxysmal dystonia (HPD)^[6]。 Bhatia^[7]According to clinical characteristics such as triggers, paroxysmal kinesigenic dyskinesia (PKD) is divided into four categories: (1) paroxysmal kinesigenic dyskinesia (PKD): induced by sudden movement; (2) PNKD: induced by non-exercise factors such as tea, coffee and alcohol intake; (3) PED: induced by prolonged exercise; (4) paroxysmal hypnogenic dyskinesia (PHD): occurs during sleep.

hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, is a single gene genetic degenerative disease of the nervous system with high clinical and genetic heterogeneity. The pathogenesis has not been elucidated, and the main possible pathological change is that the long axonal fibers descending to both lower limbs cause their damage, resulting in bilateral corticospinal tract axonal degeneration with or without demyelinating lesions. According to different inheritance patterns, HSP can be divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked recessive (XR). Among them, AD is the most common, and there are also reports of maternal inheritance and some sporadic cases^[1,2,3]。 Harding divided HSP into simple and complex types according to different clinical manifestations. The simple type is manifested as weakness of both lower limbs, progressive spasm of both lower limbs, gait instability, tendon hyperreflexia, and may be combined with sphincter dysfunction; In addition to simple manifestations, the complex type may also be accompanied by dementia, ataxia, epilepsy, extrapyramidal symptoms, retinitis pigmentosa, optic atrophy, cataract, deafness, peripheral neuropathy and skin lesions^[4]。 Complex HSP has great clinical heterogeneity and complicated neurological clinical manifestations, which can constitute different syndromes, such as Troyer syndrome (HSP with distal muscular atrophy), Kjellin syndrome (HSP with retinal degeneration), Allan-Herndon-Dudley syndrome (HSP with thyroid dysfunction), Silver syndrome (HSP with muscular atrophy of both hands), Mast syndrome (HSP with Alzheimer's disease), Behr syndrome (HSP with optic nerve atrophy), etc. Now, using HSP, complex type and syndrome as the key words, we searched the databases of CKNI, Pubmed and EMbases, and obtained 65 English articles, including 25 reported in the past 5 years. This paper reviews the clinical manifestations, genetic characteristics and pathogenesis of complex HSP-related syndromes.

amyotrophic lateral sclerosis (ALS) is a serious fatal neurodegenerative disease. The disease is mostly sporadic, and about 10% of patients are familial. According to different pathogenic genes, familial ALS can be divided into more than 20 subtypes, among which ALS8 subtype has vesicle associated membrane protein/synaptobrevin associated membrane protein B (VAPB) as its pathogenic gene, which is a rare subtype reported in recent years. At present, only 13 families in the world have reported it, most of which come from Brazil. Recently, through whole exome sequencing, we found ALS8 families with pain or tremor onset in Chinese ALS families, and the pathogenic gene is VAPB-P56S. The paper has beenJournal of NeurologyPublication^[1]。

One of the founders of modern neurogenetic diseases in China, former member of Genetics Branch of Chinese Medical Association, leader and consultant of Neurogenetics Group of Neurology Branch of Chinese Medical Association, consultant of Parkinson's Disease and Movement Disorder Group of Neurology Branch of Chinese Medical Association, editorial board member of Chinese Journal of Neurology, deputy director of Neurology Society of Guangdong Branch of Chinese Medical Association, standing member and branch director of Medical Genetics Society of Guangdong Branch of Chinese Medical Association, member of the National and Guangdong Provincial Health Care Committee, and won the title of National Outstanding Teacher, Guangdong Provincial Model Worker, Guangdong Higher Education System Outstanding Party Member, Advanced Worker and Bethune-style Advanced Worker, Guangdong Provincial Outstanding Old Scientific and Technological Worker and Caring for the Next Generation Advanced Worker, National Famous Neurology Expert, Professor of Neurology Department of the First Affiliated Hospital of Sun Yat-sen University, Expert enjoying special government allowance from the State Council, Doctoral Supervisor Professor Liu Zhuolin, He died at the First Affiliated Hospital of Sun Yat-sen University in Guangzhou at 15: 11 pm on June 14, 2016 at the age of 87.