2015年 · 第48卷第01期

Time flies and years fly. In the intense and busy fast-paced work and life, we have ushered in a 2015 full of dreams and vitality. On this occasion of farewell to the old and welcoming the new, on behalf of the editorial board of Chinese Journal of Neurology, I would like to extend my best wishes and sincere thanks to all the editorial board, reviewers, authors, readers and colleagues who care about and support our magazine!

paroxysmal kinesigenic dyskinesia (PKD) is a recurrent, motor-induced, short-lasting neurological dyskinesia. It mostly occurs in children and before puberty, and is manifested as involuntary movements such as chorea, athetosis, throwing syndrome, dystonia, etc^[1]。 PKD can be divided into familial and sporadic, and familial PKD is autosomal dominant. Since 1967, Canadian University scholar Kertesz^[2]Since the first report of this disease, scholars at home and abroad have been devoted to exploring the pathogenic genes and pathogenesis of this disease. In recent years, with the wide application of second-generation sequencing technology and the rapid development of molecular biology technology, the mystery of PKD pathogenic genes has finally been uncovered, which makes our understanding of PKD have a qualitative leap, but at the same time it also brings new challenges. We mainly explore the research hotspots and challenges of PKD, and propose coping strategies.

distal myopathy with rimmed vacuoles (DMRV), also known as hereditary inclusion body myopathy, was developed by Japanese scholar Nonaka et al^[1]First reported. This disease is autosomal recessive inheritance, and the causative gene GNE is located in 9p13.3^[2,3]。 The clinical characteristics are early onset in adults, mainly manifested as weakness and atrophy of the anterior tibialis muscle of the distal end of the lower limb, which progresses slowly over 10 to 20 years, but the quadriceps femoris is relatively unaffected until the advanced stage of the disease. Pathological examination of skeletal muscle showed that there were a large number of rimmed vacuoles in the cytoplasm. Electromyographic changes are mainly myogenic lesions, and sometimes myogenic and neurogenic lesions can occur simultaneously. Since Eisenberg et al.^[2]And Kayashima et al.^[3]Since the pathogenic gene of DMRV was confirmed as GNE, more than 100 GNE gene mutations have been reported in various ethnic groups around the world. Since 2003, DMRV cases have been reported in mainland China, but the number of DMRV cases is small, and the involvement of GNE mutations is limited. The top three cases are P.L508S, P.D176V and p.A631V^[4,5,6,7,8]。 Recently, we have clearly diagnosed 3 patients with DMRV through clinical, pathological and genetic analysis. Gene sequencing found known missense mutations p.C13S and p.D176V, which have been reported in China, Japan and South Korea; The new missense mutations p.G576R and p.A669P have not been reported at home and abroad, and are reported as follows.

diffuse large B cell lymphoma (DLBCL) is the most common aggressive non-Hodgkin's lymphoma in clinic, with a tendency to extranodal invasion. However, paraneoplastic limbic lobe encephalitis caused by it is rarely reported, especially in patients with bilateral thalamoccipital involvement on imaging. One patient admitted to our hospital is reported as follows.

As carotid artery stenting (CAS) is more and more widely used in clinical practice, various postoperative complications have been paid more and more attention. Stent displacement and retraction is a rare complication after CAS, which often leads to carotid restenosis^[1]Examples of the present report are as follows.

sudden unexpected death in epilepsy is one of the most important causes of death in epilepsy patients^[1]。 In recent years, postictal generalized electroencephalography suppression (PGES) has attracted attention as a possible EEG marker of sudden epileptic death^[2]。 It has long been noted that in patients with or near sudden death from epilepsy, there is a general inhibition of brain electrical activity after seizures^[3,4,5,6]However, this phenomenon has not been systematically studied. In 2010, Lhatoo et al.^[2]The video EEG results of 10 patients with sudden death from epilepsy were analyzed, and it was found that the proportion of PGES>50 s in these patients was higher than that in the control group, suggesting that this EEG inhibition may be a risk factor for sudden death from epilepsy. From this, he proposed the concept of PGES and defined it as: the EEG phenomenon of the whole brain with amplitude less than or equal to 10 μ V and duration greater than 2 s within 30 s after seizure, excluding the interference of muscle, activity, respiration and electrode artifacts (Figure 1)。 Since then, the research on PGES has followed this standard. We summarize recent studies on PGES to raise awareness about it.

Unilateral transient neuralgia-like headache with conjunctival hyperemia and lacrimation (short-lasting unilateral neuralgiform headache with conjunctival injection and tearing, SUNCT), It is a rare headache, which is more common in middle-aged and elderly people, but also in children and adolescents. SUNCT is classified as trigeminal autonomic cephalagias (TACs) along with short-lasting unilateral neuralgiform headache with cranial autonomic symptoms (SUNA), cluster headache, and paroxysmal hemiheadache^[1]。 The progress of its diagnosis and treatment is reviewed.

With the aging of the population, the prevalence of chronic kidney disease (CKD) is increasing gradually, and it has become an important problem affecting human health and life span. glomerular filtration rate (GFR), creatinine clearance rate, and proteinuria (or albuminuria) are commonly used in clinical or scientific research to express renal function. Epidemiological studies showed that the incidence and mortality of cardiovascular and cerebrovascular diseases such as stroke, coronary heart disease and peripheral artery disease in CKD patients were significantly higher than those in general population^[1]。 In addition, recent studies have shown that CKD has an independent correlation with the occurrence of cerebral small vessel diseases such as white matter lesions, clinical cerebral infarction and microhemorrhage. Cerebral small vessel disease has a high prevalence in the elderly population, which is an important cause of cognitive impairment and motor function decline in the elderly. Therefore, studying the relationship between CKD and cerebrovascular disease is of great significance to reduce the morbidity and mortality of cerebrovascular disease and dementia, and improve the quality of life of the elderly. We reviewed recent studies on the correlation between CKD and cerebrovascular disease in order to explore the role of CKD in the pathogenesis and progression of cerebrovascular disease.