2016年 · 第49卷第01期

In the past 2015, it was the 60th anniversary of the publication of this journal and the 100th anniversary of the founding of the Chinese Medical Association. With the strong support and help of the editorial board, reviewers, readers and authors, this journal has made some achievements, but there are also some shortcomings. On this occasion, on behalf of the magazine, we would like to express our sincere gratitude and best wishes to all the experts, readers and authors who care and support the work of the magazine!

At the National Annual Conference of Neurology held in Chengdu, Sichuan in September 2015, the conference report of Professor Cui Liying, editor-in-chief of Chinese Journal of Neurology and Peking Union Medical College Hospital, on the research status of autoimmune encephalitis (AE) aroused widespread concern from neurology colleagues, and many related papers will be published in this issue to provide reference for the clinical diagnosis and treatment of such diseases. The clinical and basic research of AE in China is still in its infancy. This paper makes a preliminary summary of the latest progress, urgent problems to be solved and challenges in the field of AE research, aiming to arouse debate and shorten the gap with the international frontier level.

pseudohypertrophy muscular dystrophy includes Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), both of which are X-linked recessive genetic diseases caused by mutations in the dystrophin (dys) gene. The incidence of DMD is approximately 30/100,000 male infants. dys deficiency in DMD/BMD patients mainly leads to skeletal muscle cell membrane defects, intracellular creatine kinase leakage, muscle cell necrosis, adipose tissue and fibrous connective tissue proliferation. The main manifestations of DMD in the early stage are atrophy and weakness of proximal lower limb and pelvic band muscles, pseudohypertrophy of calf gastrocnemius muscle, duck step and Gowers sign. In the late stage, generalized skeletal muscle atrophy can occur, and usually die of respiratory failure or heart failure in their 20s. Standardized multidisciplinary comprehensive treatment can slow the progression of the disease, prolong the life of patients and improve their quality of life.

glycogen storage disease (GSD) is a group of inherited abnormal glycogen metabolism diseases, and the liver and muscle are most susceptible to involvement. It can be divided into more than a dozen types according to the enzyme defect or transporter^[1]。 GSD type I (glucose-6-phosphatase deficiency) and type VI (hepatic phosphorylase deficiency) do not involve muscle; Other types may have muscle involvement, including: Type II (acid maltase deficiency), Type III (debranchase deficiency), Type IV (branching enzyme deficiency), Type V (myophosphorylase deficiency), Type VII (myophosphofructokinase deficiency), Type VIII (phosphorylase b kinase deficiency), Type IX (phosphoglycerate kinase deficiency), Type X (phosphoglycerate mutase deficiency), Type XI (myolactate dehydrogenase deficiency), Type XII (aldolase A deficiency), Type XI (β-enolase deficiency).

limbic encephalitis (LE) refers to an inflammatory disease of the central nervous system with acute or subacute onset and clinical manifestations characterized by near-memory loss, abnormal mental behavior and epilepsy, which can involve marginal structures such as hippocampus, amygdala, insula and cingulate cortex. Paraneoplastic LE is usually accompanied by tumors, the vast majority appear before the discovery of malignant tumors, and the neurological manifestations are far more disabling than the tumors themselves; Its early clinical manifestations are not specific, and its early diagnosis depends on the detection of paraneoplastic antibodies and its immune targets. Ma2 protein is widely distributed in normal brain tissue^[1]The clinical manifestations of anti-MA2 antibody encephalitis vary. So far, only a few dozen cases have been reported abroad, and only Guan et al. in China^[2]A case of anti-MA2 paraneoplastic encephalitis with ileal lymphoma is reported. We report a case of encephalitis with positive anti-MA2 antibody for clinical reference.

Cerebellar ataxia can be mediated by autoimmune mechanisms^[1]such as anti-glutamic acid decarboxylase antibody (anti-GAD Ab) -related cerebellar ataxia, antithyroid antibodies (ATAbs) -related cerebellar ataxia, anti-gluten antibody (anti-gluten Ab) -related cerebellar ataxia, Miller-Fisher syndrome, systemic lupus erythematosus-related cerebellar ataxia, primary autoimmune cerebellar ataxia (PACA), etc.^[2]Clinically less common. We report a patient with PACA who has been misdiagnosed for a long time. After reviewing the literature, no relevant case has been reported in China.

Cerebral infarction caused by cardioembolism accounts for 20% of stroke patients. In these patients, more than 50% of cardiogenic emboles were atrial fibrillation, whereas myxomas were only 0.5% of cardiogenic emboles^[1]。 Ventricular myxoma is a very rare form of cardiogenic embolism. A case was reported by our hospital. Echocardiography confirmed that cardiogenic embolus was left ventricular myxoma.

Patients with cerebral infarction can often be accompanied by mental state changes, including anxiety, depression, personality changes and cognitive decline^[1,2]。 However, cerebral infarction with only psychiatric symptoms is very rare, especially thalamic infarction with visual hallucinations, which has not been reported in China. One case we treated is now reported as follows.

Cervical vascular dissection (CAD) is an important cause of cerebral infarction in young and middle aged^[1]With the extensive development of cerebral angiography (DSA), more and more young and middle-aged patients with cerebral infarction are diagnosed as caused by CAD. A patient with cerebral infarction caused by CAD admitted to our hospital in October 2012 is reported below.

Anti-GQ1B antibody syndrome is an infection by microorganisms such as Campylobacter jejuni and Haemophilus influenzae, which induces the production of anti-GQ1B antibodies. Subsequently, the GQ1b antibodies bind to the GQ1b antigen of the oculomotor, trochlea, abducens nerve, muscle spindle of the limb and brainstem, resulting in an autoimmune continuous disease spectrum of central and peripheral nervous system lesions. The characteristic manifestations of anti-GQ1b antibody syndrome are extraocular muscle palsy, ataxia, and disturbance of consciousness. Which is produced by Odaka et al.^[1]First proposed in 2001. Anti-GQ1b antibody syndromes include Miller-Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) with extraophthalmoplegia, Bickerstaff's brainstem encephalitis (BBE), and acute ophthalmoplegia^[1]。 Subsequent studies have shown that this disease spectrum includes a broader range of diseases. The proposal of anti-GQ1B antibody syndrome is not only beneficial to understand the etiology and pathophysiological mechanism of MFS, GBS, BBE and acute extraocular muscle palsy, but also beneficial to clinicians to formulate treatment plans. Here, we review the research progress of anti-GQ1b antibody syndrome in order to improve clinicians' understanding of this syndrome.