2016年 · 第49卷第02期

Mitochondrial encephalomyopathy is a group of multi-system involvement diseases that mainly involve the brain and muscle system due to mutations in mitochondrial DNA genes and/or nuclear DNA genes, resulting in mitochondrial structure and/or function dysfunction. mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common type of mitochondrial encephalomyopathy. 1984 Pavlakis et al.^[1]The disease was first described and named MELAS, and it has been reported in China since 1994^[2]Subsequently, the reports of related cases gradually increased^[3,4,5]。 Peking University First Hospital Zhang Zhe et al^[6]The largest sample size (190 cases) of MELAS patients was reported and the clinical characteristics were summarized, which has important guiding significance for the diagnosis of MELAS in China.

idiopathic facial nerve palsy (idiopathic facial nerve palsy), also known as Bell palsy, is a common cranial nerve mononeuropathy, which is the most common cause of facial palsy. The incidence rate reported abroad is (11.5~53.3) /100,000^[1]。 The exact cause of the disease is unknown, which may be related to viral infection or inflammatory reaction. The clinical features were acute onset, mostly peaking around 3 d, presenting as unilateral peripheral facial paralysis with no other identifiable secondary cause. The disease is self-limiting, but early reasonable treatment can speed up the recovery of facial paralysis and reduce complications.

congenital myasthenic syndrome (CMS) is a group of neuromuscular junction dysfunction diseases caused by genetic defects, which are common in newborns or infants. This disease name was first used by Levin in 1949^[1]To describe a brother and sister whose mother is healthy and onset of disease in early infancy, and to differentiate it from neonatal myasthenia gravis. There are few reports related to this disease in China. We report a case of genetically confirmed CMS.

amyotrophic lateral sclerosis (ALS) is a fatal disease that involves both upper and lower motor neurons and is characterized by neurodegeneration. It is the most common type of motor neuron disease, which can be divided into sporadic (sALS) and familial (fALS). Among them, 5% to 10% of fALS were caused by mutations in TARDBP gene. A new mutation of TARDBP gene (c.893G>T, p.G298V) related to fALS was reported by analyzing the clinical manifestations, auxiliary examinations, gene detection results and pathogenicity of gene mutation in a patient with fALS.

Kennedy's disease (KD) is a late-onset X-linked recessive genetic disease. The patients were all male, with occult onset, showing slow progression of atrophy and weakness of proximal limb and tongue muscles^[1]。 We treated a patient with KD diagnosed by genetic testing. There were no typical symptoms such as limb weakness, but physical examination showed signs such as tongue muscle atrophy, gynecomastia, and postural tremor of the limbs. Auxiliary examinations such as electromyography also showed abnormal changes, which are reported below.

neuromyelitis optica spectrum disorder (NMOSD) is a demyelinating disease of the central nervous system distinguished from multiple sclerosis (MS), with various clinical manifestations^[1]。 We report a case of NMOSD with multiple diagnoses of acute transverse myelitis (ATM), who presented with only recurrent longitudinally extensive transverse myelitis (LETM) for up to 31 years prior to optic nerve involvement.

A 45-year-old male was admitted to the hospital on 11 June 2014 due to "left facial numbness for more than 2 months". In late March 2014, the patient developed numbness on the left side of the face and tongue after being angry, and then developed symptoms such as blurred vision and diplopia in both eyes. The local hospital performed head MRI examination and found no obvious abnormalities. Considering "cerebral infarction", the symptoms were relieved after treatment such as anti-platelet aggregation, lipid lowering, circulation improvement and anti-infection (no hormones were used). On May 18, 2014, he experienced facial numbness and swelling again, accompanied by dizziness, blurred vision, limb weakness and abnormal sweating. On May 20, 2014, an MRI examination of the head in a local hospital revealed space-occupying lesions of the pons and left bridge arm. On May 29, 2014, a stereotactic lesion biopsy (abbreviated as biopsy) was performed in the neurosurgery department of our hospital. He has been in good health, has no history of exposure to toxic substances and radiation, and has no history of drug abuse. He has smoked for more than 20 years in the past, with an average of about 20 cigarettes per day. No family history of hereditary disease.

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive genetic disease characterized by progressive muscular atrophy, which is caused by mutations in the dystrophin gene. The gene encodes and expresses dystrophin^[1,2], localized in the short arm of the X chromosome, region 2, band 1, 2-3 subbands (Xp21.2-Xp21.3), with a total length of approximately 14 kb and containing 79 exons, which makes it more susceptible to mutation. Antidystrophin is present in the sarcoma of skeletal muscle, is an integral part of the antidystrophin-associated glycoprotein complex, and is a mechanical connection between the cytoskeleton and the extracellular matrix^[3]。 If the function of dystrophin protein is defective or absent, the muscle cell membrane cannot remain intact during contraction, and changes such as abnormal protein, calcium influx, and creatine kinase outflow will occur, resulting in muscle cell degeneration or necrosis^[4]。

Parkinson's disease (Parkinson's disease) is one of the common neurodegenerative diseases. According to epidemiological investigation, the incidence of Parkinson's disease in people over 65 years old in China is 1.7%^[1]Its clinical manifestations are mainly quiescent tremor, bradykinesia, myotonia, abnormal posture and gait, and non-motor symptoms. At present, its etiology and pathogenesis are not completely clear, which may be related to aging, environment, genetics and other factors. With the development of molecular biology technology, the role of genetic factors in the pathogenesis of Parkinson's disease has attracted more and more attention. So far, more than 20 pathogenic genes have been cloned, such as SNCA (α-synuclein), which is related to autosomal dominant Parkinson's disease , LRRK2 (leucine-rich repeat kinase 2), UCHL1 (ubiquitin C-terminal hydrolase L1), DNAJC13 [DnaJ (Hsp40) homolog, subfamily C, member 13], VPS35 (VPS35 retromer complex component), EIF4G1 (eukaryotic translation initiation factor 4 gamma 1), CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) et al., the pathogenic genes associated with autosomal recessive Parkinson's disease are parkin, PINK1 (PTEN-induced putative kinase 1), DJ-1, PLA2G6 (phospholipase A2, group VI), ATP13A2 (ATPase type 13A2), DNAJC6 [DnaJ (Hsp40) homolog, subfamily C, member 6], SYNJ1 (synaptojanin 1) The pathogenic genes linked to the X chromosome include ATP6AP2 (ATPase, H + transporting, lysosomal accessory protein 2), RAB39B (member RAS oncogene family)^[2,3,4]。

amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving the anterior horn cells of the spinal cord, the motor nucleus of the brainstem and the pyramidal tract. Its clinical features are progressively aggravated muscle atrophy, weakness and pyramidal tract signs. Most patients die of respiratory failure 2~3 years after onset^[1]。 The etiology and pathogenesis of ALS are still unclear, and about 10% of patients show family aggregation tendency, suggesting that genetic factors play an important role in the pathogenesis of ALS^[1]。 So far, more than 10 genes have been confirmed to cause the occurrence of ALS, and their internal mechanisms include affecting RNA metabolism, vesicle transport disorder, cytoskeleton destruction, etc^[2]。 2011 Deng et al.^[3]The pathogenic gene UBQLN2 was localized in X-linked dominant ALS families, and it was speculated that its mechanism may be that it affects the function of ubiquitin-proteasome, which leads to abnormal inclusion body formation in cells, which in turn leads to the occurrence of ALS. The research progress of ALS and UBQLN2 genes in recent years is summarized as follows.

bullous pemphigoid (BP) is a common autoimmune vesicular skin disease, rare in people under 50 years of age^[1]The incidence of BP was positively correlated with age, mainly in the elderly population, and was common in patients>70 years old in Western Europe. Among BP patients, the elderly population has a higher mortality rate than the general population. The annual mortality rate of BP patients in China is 12.9%, which is lower than that of 19% ~41% in Europe^[1,2,3,4,5]。 The results of recent 20 years showed that cerebrovascular disease, dementia, Parkinson's disease, multiple sclerosis, epilepsy and amyotrophic lateral sclerosis were all related to BP^[6]。 Patients with BP had an increased risk of death with stroke (multivariate analysis:HR＝2.11，95%CI1.07～4.19)^[7]。 Research results suggest that neurological diseases (including cerebrovascular diseases) increase the risk of BP^[8,9]Some scholars also believe that BP is a high risk factor for cerebrovascular disease^[10]。 Therefore, we reviewed the relationship between the two to improve clinicians' understanding of the link between BP and cerebrovascular disease.

sensory-motor intergration refers to the process of assisting the execution of motor programs after sensory input signals are integrated by the central nervous system. Sensorimotor dysfunction includes excessive and erroneous signaling, erroneous central processing, and input-output loop mismatches that cause specific motor programs. A plurality of brain regions are involved in the sensorimotor integration circuit, including primary sensory cortex (S1 region), secondary sensory cortex (S2 region), primary motor cortex (M1 region), auxiliary motor region, basal ganglia region, thalamus, brainstem, and the like. Some researchers call the combination of S1 and M1 the sensory-motor cortex. At present, numerous imaging, neuroelectrophysiology, animal models and clinical studies suggest that abnormal sensorimotor integration is an important mechanism of focal dystonia (FDT). FDT is a common movement disorder, and its incidence is second only to Parkinson's disease and essential tremor. At present, its etiology and pathogenesis are still unclear. Most researchers believe that there are common pathophysiological mechanisms in various types of FDT. Therefore, we will summarize the role of sensory integration in FDT.