2016年 · 第49卷第05期

In recent years, the drug treatment of epilepsy has made great progress, and a new generation of anti-epileptic drugs have been applied in clinic. However, there are still 20% ~30% of epilepsy patients with poor response to drug treatment, which eventually evolves into drug-refractory epilepsy. Surgical resection of epileptogenic foci is still the first choice in the treatment of refractory focal epilepsy. Standardized preoperative evaluation is the prerequisite for good therapeutic effect, and how to accurately locate the epileptogenic focus and functional area is the key to preoperative evaluation. Traditional techniques for localizing epileptogenic foci include seizure symptomatology analysis, EEG signal interpretation, and rational application of brain imaging examination results. Emerging technologies include electroencephalogram-functional magnetic resonance imaging (fMRI) and magnetoencephalogram. The combination of various technologies can comprehensively locate epileptogenic foci. Localization techniques of functional areas include invasive cortical electrical stimulation and Wada test, non-invasive fMRI and transcranial magnetic stimulation, etc.

Peripheral neuropathy, ataxia and retinitis pigmentosa (NARP) syndrome is a maternal mitochondrial encephalomyopathy caused by mutation of ATP6 protein encoded by mitochondria. The main clinical manifestations are peripheral neuropathy, ataxia and retinitis pigmentosa. We present a patient with NARP, whose clinical features, imaging features, electrophysiological features, skeletal muscle pathology and ATP6 gene were analyzed for clinical reference.

Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary peripheral neuropathies with an incidence rate of about 1/2 500. The main clinical features are progressive muscular weakness and muscular atrophy with sensory disturbance predominantly in both lower limbs, with high clinical and genetic heterogeneity^[1]。 CMT2J is a type of CMT subtype with special clinical characteristics, which has been rarely reported at present. The clinical data of a family of CMT2J induced by myelin protein zero (MPZ) gene mutation are retrospectively analyzed as follows.

Isolated oculomotor nucleus paralysis usually refers to complete paralysis of the extraocular muscles innervated by the ipsilateral oculomotor nerve with contralateral ptosis and superior rectus insufficiency, while the intraocular muscles are not affected. Common causes brain stem lesions, such as vascular disease, inflammation, tumor, etc^[1,2,3,4]。 Because the oculomotor nerve nucleus is long columnar and scattered, the small damage is mostly partial damage, which manifests as dissociative ophthalmoplegia. Typical isolated oculomotor nuclear palsy is rare. Two cases of isolated oculomotor nuclear palsy caused by midbrain infarction diagnosed and treated in our hospital are reported as follows.

The lentiform fork sign, developed by Kumar and Goyal^[1]A characteristic neuroimaging change proposed in 2010 is an abnormal signal with basically symmetric bilateral lenticular nuclei, which is clinically more common in Asian populations, especially in patients with end-stage diabetic renal disease. At present, only more than 30 cases have been reported abroad^[2]There are few similar reports in China. Recently, a patient in the Department of Nephrology of our hospital met the manifestations of this syndrome, which is reported as follows.

Surgical treatment is one of the effective treatment methods for drug-refractory focal epilepsy, and its surgical protocol and efficacy largely depend on the accuracy of preoperative evaluation. Magnetic resonance imaging (MRI) is the most widely used non-invasive preoperative evaluation technique. Compared with conventional 1.5T ordinary MRI, 3.0T high resolution MRI can increase the positive rate of lesion finding by about 65%^[1]。 However, about 16% of patients were judged to be "negative" by MRI, and the postoperative seizure control rate of these patients was only about 38%^[2]Therefore, improving the positive rate of MRI in patients with refractory focal epilepsy is crucial for their preoperative evaluation. Multimodal imaging techniques, such as positron emission computed tomography (PET) and single photon emission computed tomography (SPECT) fused with MRI, are widely used to improve the detection rate of microepileptogenic pathology^[3]Magnetoencephalography has also been used to locate epileptogenic areas. However, in the above-mentioned examinations, patients need to be injected with radiotracers, and the instruments and equipment are relatively expensive, which has not been carried out in many clinical centers in China.

epilepsy is the most common chronic neurological disease, accounting for 0.6% to 1.0% of the total population, and half of the patients are women with epilepsy (WWE). About 1/3 of patients taking antiepileptic drugs (AEDs) are women of gestational age, and almost half of them have unplanned pregnancies^[1]。 The prevalence of epilepsy in pregnant women ranges from 0.3% to 0.8%, making it one of the common neurological diseases in pregnant women^[2]。 The mortality rate of WWE during pregnancy is much higher than that of non-pregnancy, which is 10 times that of the general population, and the incidence of sudden unpredictable deaths is 100/100,000^[3]。 We will briefly explain the research progress of pregnancy-related issues in WWE.

Epilepsy is a major disease in neurology, with a prevalence rate of 0.5% ~1.0%. Its clinical characteristics are long course of disease, repeated symptoms, high disability and mortality rate, which brings a heavy burden to patients and society. Even if adequate and standardized antiepileptic drug treatment is given, there are still 20% ~40% of patients with epileptic seizures that cannot be effectively controlled, which is called drug-refractory epilepsy. Among them, only 60% of patients are suitable for surgical treatment^[1]。 With the development of electronic industry and the in-depth understanding of the nature of disease, neuromodulation technology has gradually become a new choice for the treatment of epilepsy. Neuromodulation techniques refer to techniques that act on the central or peripheral nervous system and regulate the functional state of the nervous system by implantation or non-implantation devices, using electrical or chemical methods, including vagus nerve stimulation (VNS), trigeminal nerve stimulation (TNS), deep brain stimulation (DBS), repetitive transcranial magnetic stimulation (rTMS) and transcranial current direct stimulation (tDCS), etc. The first two were peripheral nerve stimulation, and the last three were central nerve stimulation. In view of the fact that some neuromodulation techniques need invasive operation and have certain limitations in clinical application, we review the application progress of non-invasive neuromodulation techniques in the treatment of epilepsy, and provide new solutions for clinical epilepsy treatment.

long noncoding RNA (lncRNA) is usually a class of RNA with a length of more than 200 nt and lacks an obvious open reading frame. It has no protein coding function and plays a wide role in epigenetic regulation in the life activities of organisms^[1]。 By regulating the expression of some important coding genes, lncRNA makes the nervous system grow and develop in a certain time sequence and in a certain space, and participates in performing the functions of the nervous system^[2,3]。 Recent studies have shown that specific lncRNA is closely related to neural cell differentiation, synapses, increased neuronal excitability, and connection and remodeling of neural networks, suggesting that it may be involved in the occurrence and development of epilepsy. We review the progress of research on the relationship between lncRNA and epilepsy.

The conventional view is that amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that selectively involves anterior horn cells of the spinal cord, motor nucleus of the brainstem, cortical pyramidal cells and pyramidal tract^[1]。 The disease is a progressive course with poor prognosis, and there is a lack of specific treatment at present. At present, the etiology and pathogenesis of the disease are still unclear, but more and more studies suggest that the disease can still involve nervous system functions other than exercise, among which cognitive^[2]And behavior^[3,4]The involvement is more prominent, and a large number of molecular imaging, functional magnetic resonance and other studies have confirmed the partial impairment of these functions. Molecular imaging technology, especially PET/CT, has high temporal and spatial resolution and has been widely used in Parkinson's disease in recent years^[5,6,7]Alzheimer's^[8]and multiple system atrophy^[9]In the research and diagnosis of degenerative diseases of the nervous system. Searching for molecular imaging detection methods with high sensitivity and specificity, and exploring the possible mechanisms of cognitive and behavioral impairment in sporadic ALS has gradually become a research hotspot. We briefly review the status and progress of PET/CT in ALS research.

amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease and a major component of motor neuron disease. ALS is classically characterized by selective involvement of the motor part of the central nervous system, including the upper motor neurons of the motor cortex and the brainstem nucleus, and the lower motor neurons in the anterior horn of the spinal cord. The movement system can be divided into four parts according to the affected part: bulbar segment, cervical segment, thoracic segment and lumbosacral segment. These four different segments and their different combinations of upper and lower motor neurons constitute the complex clinical phenotype of ALS.

In 2001, Japanese scholars found that the serum IgG4 concentration in patients with sclerosing pancreatitis was increased, and the concentration of IgG4 was closely related to the activity of the disease^[1]Subsequently, it was found that various organ lesions such as salivary gland, lacrimal gland and retroperitoneum were closely related to IgG4^[2]。 Therefore, IgG4-related disease (IgG4-RD) is attracting more and more attention as a new autoimmune disease entity. IgG4 has been reported to involve the meninges and cause IgG4-related hypertrophic pachymeningitis (IgG4-RHP)^[3,4,5,6]。 Pathological sections and IgG4 staining were performed on some patients who were originally diagnosed with idiopathic hypertrophic meningitis, and it was found that these cases were consistent with the diagnosis of IgG4-RHP, indicating that at least some of the previously unknown hypertrophic meningitis was related to IgG4. Some scholars even believe that IgG4-RHP may be the most common cause of idiopathic hypertrophic meningitis^[3,5,7]。 Therefore, we reviewed the recent research progress on IgG4-RHP.

On the occasion of the 100th anniversary of the establishment of Chinese Medical Association, the 30th anniversary of the establishment of the Electromyography and Clinical Neurophysiology Group of the Neurology Branch of the Chinese Medical Association, and the 25th anniversary of the establishment of the Neuromusculology Group of the Neurology Branch of the Chinese Medical Association, the 10th National Academic Conference on Neuromusculopathy, sponsored by the Neuromusculology Group, the Electromyography and Clinical Neurophysiology Group of the Neurology Branch of the Chinese Medical Association, and co-organized by the Department of Neurology of Qilu Hospital of Shandong University, was held in Qingdao, Shandong Province from June 4 to 6, 2015. The opening ceremony of this conference was presided over by Professor Chen Lin, member of the Neurology Branch of Chinese Medical Association and deputy leader of the Neuromusculology Group. Professor Yan Chuanzhu, executive chairman of the conference, member of the Standing Committee of the Neurology Branch of Chinese Medical Association and deputy leader of the Neuromusculology Group, delivered a welcome speech. Professor Cui Liying, chairman of the conference, chairman-designate of the Neurology Branch of Chinese Medical Association and leader of the Electromyography and Clinical Neurophysiology Group, and Professor Pu Chuanqiang, chairman of the conference, chairman of the Neurology Branch of Chinese Medical Association and leader of the Neuromusculology Group, delivered speeches respectively. This conference also specially invited professors Tang Xiaofu, Liang Xiuling, Li Danian, Shen Dingguo, Murong Shenxing, Sun Xiangru and other veteran experts in neuromuscular diseases, electromyography and clinical neurophysiology in China to attend.