2015年 · 第48卷第11期

myopath with rimmed vacuoles refers to a myopathy manifested by the pathologically observed presence of a special vacuoles in the muscle fibers. With the popularization and application of muscle pathological diagnosis technology, peers in neuromuscular diseases have gradually discovered that edge vacuoles are a non-specific muscle tissue pathological change, which can appear in many kinds of muscles; However, sometimes, patients have undergone comprehensive testing of related genes, but still can't find the mutation, can't determine the type, and can only use the diagnosis of "marginal vacuolar myopathy".

myasthenia gravis (MG) is an acquired autoimmune disease mediated by acetylcholine receptor (AChR) antibody, cellular immune-dependent, complement-involved, involving the postsynaptic membrane of the neuromuscular junction, causing neuromuscular junction transmission disorder and skeletal muscle contraction weakness. A very small proportion of MG patients are mediated by muscle specific tyrosine kinase (MuSK) antibodies and low-density lipoprotein receptor-related protein 4 (LRP4) antibodies. Its main clinical manifestations are skeletal muscle weakness, easy fatigue, aggravation after activity, and obvious relief and reduction of symptoms after rest and application of cholinesterase inhibitors. The average annual incidence rate is (8.0-20.0) /100,000 people^[1]。 MG can develop at all ages. Before age 40, the incidence was higher in women than in men; The incidence rate of males and females aged 40-50 is comparable; After age 50, the incidence is slightly higher in men than in women.

lipid storage myopathy (LSM) refers to a group of myopathies with fat deposition in muscle fibers as the main pathological feature caused by enzyme or prosthetic group defects in the primary fat metabolism pathway. The clinical manifestations are progressive muscle weakness and exercise intolerance, and the course of the disease can be fluctuating. Two cases of LSM were first reported in China in the early 1980s^[1]With the extensive development of muscle biopsy (abbreviated as biopsy) pathological diagnosis technology, more and more reports of this disease. Reports from several myopathy centers in China show that LSM accounts for 3% to 9% of the total number of muscle biopsy cases, much higher than that of Japan, an Asian neighbor (only 0.5%)^{[2,3,4,5,6,7,8,9]}。

polymyositis (PM) is an acquired muscle disease with proximal muscle involvement as the main manifestation. It belongs to idiopathic inflammatory myopathies (IIMs) along with dermatomyositis, sporadic inclusion body myositis (sIBM) and immune-mediated necrotizing myopathy (IMNM)^[1,2]。 The annual incidence of IIMs reported in Europe and America is about 1/100,000 (according to Bohan and Peter criteria), among which PM is the rarest, but PM is the most common in Japan. The incidence of various IIMs in China is unknown, but PM is not the least.

Electromyography is a technique for recording various electrical properties of muscles at rest, voluntary contraction and stimulation of peripheral nerves^[1]。 Narrow sense electromyography usually refers to the use of conventional concentric round needle electrodes to record various electrical characteristics of muscle resting and voluntary contraction. In addition to nerve conduction study (NCS) and conventional concentric needle electromyography (EMG), generalized electromyography also includes other items of electrophysiological detection, such as repetitive nerve stimulation (RNS), F-wave, H-reflex, blink reflex (BR), single fiber electromyography (SFEMG), motor unit number estimation (MUNE), macro-EMG, motor induction test, and so on.

Patients with coma after cardiopulmonary resuscitation may have a poor prognosis [Cerebral Performance Categories Score (CPCS) Score 3 to 5]^[1,2]If the severity of brain injury can be objectively and accurately assessed and the prognosis predicted early in the brain injury, medical input or withdrawal can be reasonably made. Since 1960s, domestic and foreign scholars have been devoted to the evaluation of patients with coma after cardiopulmonary resuscitation, and have made great progress. In order to better apply this research result and provide medical decision-making basis for clinicians or patients' families, the Neurocritical Care Collaborative Group of Neurology Branch of Chinese Medical Association wrote about the evaluation of coma after cardiopulmonary resuscitation from four aspects: clinical signs, neuroelectrophysiology, neurobiochemistry and neuroimaging. The writing steps include literature search and review (1988 – 2014 Medline and CNKI databases), evidence level confirmation and recommendation confirmation (2011 version of Oxford Center for Evidence-Based Medicine standards)^[3]。 If the evidence is temporarily insufficient, the recommendation level (A-level recommendation) will be raised after a high consensus is reached after expert discussion. For Grade I evidence with too high false positive rate, the recommendation level (Grade B recommendation) was lowered after reaching a high consensus after expert discussion.

idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri, is a state of increased intracranial pressure without obvious pathological basis and evidence of venous thrombosis. Clinically, the symptoms of hypertension such as headache, nausea, vomiting and papilledema are the main symptoms. IIH is common in overweight women, whose increased intracranial pressure is inferred to be related to endocrine-mediated electrolyte disorders^[1]。

brucellosis is a common zoonotic disease, most common in the Middle East, Mediterranean and South America. In China, it is more common in pastoral areas such as Inner Mongolia, Northeast China and Northwest China. In recent years, the incidence of this disease has been increasing year by year, especially in Inner Mongolia Autonomous Region, Northeast China and Xinjiang Uygur Autonomous Region. The main clinical manifestations of this disease are fever, hyperhidrosis, joint pain, hepatosplenomegaly, etc., which mostly involve joints and spine, and neurological lesions are rare. The disease has a high disability rate and a poor prognosis^[1]。

Hereditary stress-predisposed neuropathy (HNPP) is a rare autosomal dominant peripheral neuropathy, which often involves the common peroneal nerve, radial nerve and ulnar nerve, and the cranial nerve is less involved^[1]。 A case of HNPP with recurrent recurrent laryngeal nerve palsy, which was genetically confirmed, admitted to the Department of Neurology, Jing' an District Central Hospital, Shanghai, was reported for clinical reference.

While Chinese clinicians are still wondering about the significance of brain injury assessment, the progress of brain injury assessment technology worldwide has spanned half a century. In 1962, Dr. Alexander evaluated intracranial hypertension in patients with craniocerebral trauma using pupil diameter and pupil-to-light reflex^[1]； In 1974, the Glasgow Coma Scale (GCS), created by Dr Teasdale based on craniocerebral trauma, was introduced^[2]Because of its simplicity and practicality, it is widely used in various brain injury assessment. Today, the most advanced medical technology has been applied to the assessment of brain injury. In 2013, Palacios tried applying resting-state functional magnetic resonance imaging to assess the severity of axonal injury in patients with craniocerebral trauma^[3]； In 2015, Alvarez applied continuous monitoring of skin electrical activity to assess the activity of sympathetic nerves in patients treated with hypothermia after cardiopulmonary resuscitation^[4]。 In the past 50 years, coma after CPR (70%)^[5]Coma after craniocerebral trauma (41%)^[6]and post-stroke coma (at least 17%)^[7]Such amazing data are closely related to brain injury assessment, and dozens of brain injury assessment technologies are beginning to show their powerful vitality. We need to explore the mystery of coma, which is related to the possibility and meaning of survival. We need more to understand the severity of brain injury, which is related to medical decisions, treatment choices, and outcome changes. Therefore, the significance of brain injury assessment is self-evident, and related research results will also write a strong note for neurology and critical care medicine.

Parkinson's disease is a common neurodegenerative disease, with a prevalence of about 1.7% in the elderly population over 65 years old^[1]。 The clinical features of Parkinson's disease include motor symptoms such as reduced movement, quiescent tremor, myotonia and postural gait abnormalities, and non-motor symptoms such as sleep disturbance, sensory and autonomic function abnormalities. At present, the clinical diagnosis of Parkinson's disease is still mainly based on characteristic motor symptoms^[2]。

The patient was a 56-year-old male who smoked and drank alcohol for a long time. He was admitted to hospital on January 6, 2015 due to dizziness with nausea and vomiting for more than half a day. Five months ago, the patient remained dysarthria and right hemiparesis due to brainstem infarction, and hypertension and diabetes were found at the same time. Inability to speak and progressive aggravation of quadriplegia occurred after admission. Physical examination: clear consciousness, inability to speak, dysphagia, abduction of both eyeballs not reaching the edge (exposure about 2 mm), bilateral soft palate arch drooping, restricted uplift, pharyngeal reflex disappearing, tongue extension inability, right upper limb muscle strength grade IV, right lower limb muscle strength grade II, left upper and lower limb muscle strength grade II, low muscle tone of limbs, co-taxic movement and sensory examination cannot be completed, bilateral Babinsky sign positive. Auxiliary examination: Except for fasting glucose 7.60 mmol/L (↑) and fibrinogen 6.85 g/L (↑), other biochemical indexes were normal, and the routine examination of infection immunity, complete set of thyroid function, complete set of rheumatism, anti-nuclear antibody + anti-extractable nuclear antigen antibody were all normal. Cervical vascular ultrasound showed bilateral common carotid artery atherosclerosis with left common carotid artery plaque formation and bilateral internal carotid artery occlusion; Cranial MRI showed bilateral parapontine median baso-tegmental infarction in the acute phase (FIG. 1A，FIG. 1B，Figure 1C，Figure 1D，Figure 1E，Figure 1F，Figure 1G)； CTA of the skull showed segmental stenosis of bilateral vertebral arteries, poor basilar artery development, bilateral internal carotid artery C1 segment occlusion, and obvious increased compensation of abnormal vascular network in the skull base (Figure 1H、Figure 1I)。

myotonic dystrophy (DM) belongs to a class of neurodegenerative genetic diseases caused by abnormal amplification of unstable microsatellite DNA. Different from genetic diseases usually caused by loss or gain of protein function caused by gene mutation, DM is mainly caused by gain of RNA function. We review recent important findings regarding gain in RNA function in the pathogenesis of DM and possible potential therapeutic approaches.

malformation of cortical development (MCD) is caused by the mutation or abnormality of a certain gene or protein involved in the development of the cerebral cortex by genetic factors and external harmful factors. The most common clinical manifestation is epilepsy or mental retardation. Pathology includes cortical dysplasia, giant neurons, abnormal neurons, balloon-like cells, glial cell proliferation, ectopic nodules, etc. Different types of diseases have different pathological manifestations. At present, the treatment is mainly symptomatic treatment such as anti-epilepsy, while the clinical treatment effect of refractory epilepsy caused by MCD is not ideal, so the status of targeted therapy is becoming more and more important in the treatment. The mammalian target of rapamycin (mTOR) signaling pathway is at the center of growth and development regulation, and has attracted much attention from scholars. In the central nervous system, mTOR not only participates in cell growth, proliferation and differentiation by regulating protein synthesis and cell progression, but also is related to the development of neurons, glial proliferation, synaptic plasticity, ion channels, neurotransmitters, oxidative stress, apoptosis and autophagy. Recent studies have found that there is activation of mTOR signaling pathway in focal cortical dysplasia (FCD), tuberous sclerosis complex (TSC), hemimegalencephaly (HME), gangioglioma (GG) and other diseases^[1]。 The role of mTOR signaling pathway in the pathogenesis of MCD is pending and needs further confirmation.

Parkinson's disease is the second most common neurodegenerative disease. Its main pathological mechanism is the progressive degeneration and necrosis of dopaminergic neurons in substantia nigra and the formation of Lewy bodies, resulting in dopamine production disorders and a series of motor-related symptoms. At present, there is no reliable treatment method that can inhibit or even reduce the progression of Parkinson's disease. Therefore, it is of great significance to make animal models related to Parkinson's disease to understand the pathological mechanism of the disease and explore new treatment strategies.

hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, was first reported by Strumpell (1880) and Lorrain (1898) in the 19th century. It is a group of rare neurological diseases with high clinical and genetic heterogeneity^[1]。 HSP is a degenerative disease of the nervous system, and its clinical manifestations are mainly progressive aggravation of spastic gait, increased muscle tone of both lower limbs, tendon hyperreflexia, ankle clonus, positive pathological signs, muscle weakness, etc., which may be accompanied by abnormal bladder and rectum function, hypovibration of ankle joint, arched foot, etc. The pathological changes of HSP are mainly axonal degeneration and demyelination, which mainly involve the long ascending and descending fibrous bundles (corticospinal bundles and dorsal bundles) in the spinal cord, especially the distal ends of these fibrous bundles^[1,2,3]。

The 7th Pan-Asian Conference on Treatment and Research of Multiple Sclerosis (PACTRIMS) was held in Taipei, Taiwan, China on November 6 – 8, 2014. Prof. Takahiko Kuta of Japan and Prof. William Bill Carroll of Australia served as the chairman and vice-chairman of the conference, respectively. Professors such as Cai Qingbiao, Akio Suzumura and Junichi Kira participated in the conference. More than 400 experts from 25 countries and regions in the Asia-Pacific region attended the conference, and well-known neurologists from Europe and America were also invited. The conference mainly involves basic and clinical research on the epidemiology, etiology, pathology, clinical manifestations, imaging and treatment of neuroimmune demyelinating diseases such as multiple sclerosis (MS), neuromyelitis optica (NMO) and neuromyelitis optica spectrum disease (NMOSD).