PurposeTo explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners.MethodsRetrospective analysis of clinical data and muscle pathology of two ATS families, along with genetic testing for probands and some family members.ResultsIn Family 1, spanning four generations, four individuals were affected, while Family 2 had two affected individuals across four generations. All six patients in both families experienced onset in childhood, presenting with periodic paralysis, arrhythmias, and craniofacial skeletal abnormalities. In Family 1, the proband’s periodic paralysis was more triggered by low temperature and exercise, occurring several times a year, lasting 4–7 days. All three adult patients in Family 1 had a history of hypokalemia, and the frequency and severity of attacks were reduced after regular oral potassium supplement therapy. Two adult females in Family 1 experienced limb weakness triggered by stress, exertion, and premenstrual period, with milder symptoms than the proband. In Family 2, the proband’s periodic paralysis typically occurred the day after excessive exertion, with a frequency of approximately 2–3 months. Two years prior, the proband developed arrhythmias without palpitations or chest tightness. The proband’s brother experienced intermittent limb weakness during adolescence, remained untreated, and had sudden death at age 40. Physical examination revealed characteristic features in Family 1 and both probands: small mandible, wide eye spacing, and fifth-digit clinodactyly. Four adult patients were shorter in stature, while the growth status of a pediatric patient was indeterminate. Supplementary tests showed a history of hypokalemia during muscle weakness episodes in Family 1, while Family 2 patients had normal potassium levels during episodes. The long exercise tests were positive in both probands. Muscle MRI showed no significant abnormalities, but muscle pathology revealed rimmed vacuoles and tubular aggregates. Genetic testing identified KCNJ2 gene mutations in two probands and some of their family members, with c.407C > T (p.S136F) heterozygous mutation in Family 1 and c.652C > T (p.R218W) heterozygous mutation in Family 2.ConclusionAmong the clinical symptoms of the patients with Andersen-Tawil Syndrome in this study, not everyone exhibits the full triad of signs: periodic paralysis is the most common initial symptom, craniofacial and digit skeletal abnormalities are characteristic signs, and ventricular arrhythmias pose the most serious potential risk. Given that these typical symptoms were observed in 5 out of 6 patients, clinicians should pay special attention to these typical symptoms, and patients with these symptoms should be followed up over time. Muscle biopsy May reveal pathological changes such as tubular aggregates, but genetic testing for KCNJ gene mutations remains a crucial diagnostic criterion for this syndrome.

Objective:To summarize the clinical, imaging, muscle pathological and gene mutational features of patients with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods:Three patients with late-onset MELAS, admitted to Department of Neurology, Jiaozuo People's Hospital Affiliated of Xinxiang Medical University from January 1997 to December 2021 were chosen; all patients were screened for mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations by second-generation gene sequencing. The clinical, imaging, muscle pathological and gene mutational features of patients with late-onset MELAS were analyzed retrospectively.Results:The main clinical manifestations of these late-onset MELAS patients included stroke-like attacks, headache, hearing and vision loss, cognitive decline and mental disorder. The muscle tension and muscle strength of both upper extremities in these 3 patients were normal. Increased muscle tension and active tendon reflexes, and positive pathological signs in both lower extremities were noted in 2 patients. Head MRI showed abnormal long T1 and long T2 signals in temporal occipital parietal cortex and subcortex in 3 patients, and CT showed calcification in bilateral globus pallidus in 1 patient. Ragged red fibers (RRF) and ragged blue fibers (RBF) were found in the muscle biopsies of 3 patients, and cytochrome oxidase (COX)-negative muscle fibers were found in 2 patients. MT-TL1 gene m.3243A>G mutation was detected in all 3 patients by genetic testing, among which mutation in the blood of 2 patients was 15% and 17%, respectively, and mutation in the muscle tissues of 1 patient was 73%. Conclusion:Muscle pathology indicates high RRF percentage in patients with late-onset MELAS; and m.3243A>G spot mutation is the most common mutation type in late-onset MELAS, and m.3243A>G mutation ratio in muscle tissues is obviously higher than that in blood.

Objective:To summarize the characteristics of clinical, muscle pathology and gene mutation of late-onset reducing body myopathy caused by FHL1 gene mutation, in order to improve clinicians′ understanding of this disorder. Methods:The clinical, muscle pathology and muscle magnetic resonance imaging data of the proband from a family diagnosed as reducing body myopathy in Jiaozuo People′s Hospital in December 2021 were collected. Genetic tests and pedigree verification were conducted on the proband and her son.Results:The proband was a 59-year-old female with progressive, asymmetrical limb weakness and muscular atrophy. Her mother, sister and brother had similar symptoms. Electromyography showed myogenic and neurogenic damage. Muscle magnetic resonance imaging indicated that the lesion mainly involved the posterior muscles of the thigh and calf, as well as the gluteus maximus. The muscle pathology showed eosinophilic granular inclusion bodies and rimmed vacuoles in the muscle fibers of the lesion. The structure of myofibrils was disordered and abnormal protein deposition was observed. The gene sequencing showed the FHL1 gene p.C150S heterozygous variation. Conclusions:Late-onset reducing body myopathy is characterized by progressive asymmetric proximal limb muscle weakness, partially involving distal limb muscles and gluteus maximus. Muscle pathology shows the characteristic pathological changes of many kinds of myofibrillar myopathies. FHL1 gene mutation is an important basis for diagnosis.

女，36岁，3年前无诱因出现双手无力，表现为手指屈曲力弱、握拳不紧(图1A、1B)，症状缓慢进展。1年前出现走路姿势异常，腰部前倾。1月前发现双足踇不能上翘，双手肌肉轻度萎缩。家族中无类似患者。查体：颅神经功能正常，转头、耸肩力弱，屈颈2级，伸颈4级。四肢肌张力正常，肌力检查臂外展、伸、屈肘均为5级，伸、屈腕4级，伸指4-级，屈指4-/3级(左/右)，伸、屈髋5级，伸、屈膝5-级，跖屈4级，背伸4-级，踇背伸2级，双手大鱼际肌萎缩(图1C)，双上肢腱反射+，双下肢腱反射++，双侧病理征均为阴性。起蹲正常，无法用足跟行走。内科系统查体未见异常。

Objective:To investigate the clinical characteristics and electron transfer flavoprotein dehydrogenase ( ETFDH) genetic mutations in patients with riboflavin responsive lipid storage myopathy (RR-LSM). Methods:A retrospective analysis was performed. The clinical data and muscular pathology of 26 patients with RR-LSM, admitted to our hospital from January 2009 to June 2021, were collected. Peripheral venous blood DNA was extracted, and the mutations of ETFDH gene were detected and analyzed by whole exome sequencing. Results:These 26 patients had onset of proximal limb myasthenia, 17 patients had difficulty in raising their head, 12 patients had mastication weakness, 6 had dysphagia, 5 had nausea and vomiting, and one was complicated with rhabdomyolysis and one was with reversible splenic lesion syndrome. Muscle biopsy indicated pathological deposition of lipid droplet, which type I fibers were involved mainly; degenerative necrotic muscle fibers were seen in a few cases. ETFDH gene mutations were detected in 26 patients; 23 patients had compound heterozygous mutation, two had single heterozygous mutation and one had homozygous mutation; 25 different mutation sites were found, mainly missense mutations; the C.770A>G frequency was the highest, accounting for 20% alleles (10/50); two novel mutation sites were found: c.1115A>G and c.1781T>C. Conclusion:RR-LSM is mainly characterized by proximal limb muscle weakness and fatigue intolerance, often accompanied by neck extensor and masticatory weakness; c. 770A>G is the hot site of ETFDH genetic mutations in RR-LSM patients.

Objective:To investigate the characteristics of clinical, muscle pathology and gene mutation in patients with nemaline myopathy caused by NEB gene mutation.Methods:The clinical and pathological data of patients with nemaline myopathy caused by NEB gene were collected from Neuromuscular Center of Jiaozuo People′s Hospital from January 1997 to January 2020. The next generation sequencing was preformed to detect NEB gene in all patients, and characteristics of gene mutation were analyzed.Results:Among the 11 patients, there were 8 males and 3 females, and 6 of them came from 2 families. The age of seeing a doctor ranged from 11 to 52 years, the age of onset was from 6 to 23 years, and the course of disease ranged from 5 to 35 years. Neurological examination showed that among the 11 patients, 8 patients had high palatal arch and long face. The muscle tone of both upperlimbs was normal, the tendon reflex was depressed, the proximal muscle strength was grade Ⅲ-Ⅴ, and the distal muscle strength was grade Ⅴ. The muscle tone of both lower extremities was reduced and the tendon reflex was absent. The proximal muscle strength was grade Ⅱ-Ⅳ and the distal muscle strength was grade Ⅲ-Ⅴ. No dysphagia or respiratory muscle involvement was found. Muscle biopsies were performed in 7 of the 11 patients, the pathological changes were muscle fibers of different sizes, circular atrophic muscle fibers and compensatory hypertrophic fibers, and occasionally denatured and necrotic muscle fibers were found. Different degrees of rod aggregation could be seen in all the 7 patients. Electron microscopic examination of 5 patients showed that there was rod aggregation between myofibrils, and most of them were located near the Z band, but no intranuclear rod was found. NEB gene was found in all 11 patients, and a total of 9 different mutation sites were detected, including 8 in exon region and 1 in intron region. Among them, c.21522+3A>G was found in 10 cases, c.1623delT was found in 3 cases and c.17611C>T was found in 3 cases. There was 1 case of c.4417C>T, c.2549delA, c.21065dupA, c.3520G>A, c.20943G>A, c.192G>A respectively.Conclusions:The clinical phenotype of nemaline myopathy caused by NEB gene has great heterogeneity. Muscle pathology shows that rod aggregation is an important basis for the diagnosis of this disease. Mutation c.21522+3A>G in intron is the most common mutation in this group of NEB gene. And the novel mutation sites of NEB gene are respectively c.17611C>T, c.2549delA, c.3520G>A, c.21065dupA, c.20943G>A and c.192G>A.

目的 探讨重复经颅磁刺激(rTMS)对脑卒中患者神经功能恢复及运动诱发电位的影响.方法 纳入焦作市人民医院2020-05—2021-08收治的60例脑卒中患者,分为对照组30例和研究组30例.2组均行脑卒中常规治疗,对照组用常规Bobath技术治疗,研究组在常规Bobath技术治疗的基础上采用rTMS治疗,应用NIHSS评分、改良Barthel指数(MBI)比较2组患者治疗前后神经功能恢复情况、日常生活能力和运动诱发电位.结果 2组治疗后2、4周NIHSS评分均下降,研究组NIHSS评分明显低于对照组[2周:(13.26±2.09)分vs(15.51±2.84)分;4周:(10.45±2.36)分vs(12.25±3.43)分],差异均有统计学意义(P<0.05).治疗后研究组MBI评分高于对照组[(73.56±16.36)分vs(57.22±13.31)分],差异有统计学意义(t=4.27,P<0.05).2组治疗后运动诱发电位(MEP)潜伏期、中枢运动传导时间(CMCT)均低于治疗前,差异有统计学意义(P<0.05).研究组MEP潜伏期明显低于对照组[(26.06±2.30)ms vs(28.09±2.24)ms],波幅明显大于对照组[(1.42±0.40)mV vs(1.16±0.22)mV],差异均有统计学意义(P<0.05).结论 rTMS治疗脑卒中有效率较高,能够促进患者神经功能的恢复,明显改善运动诱发电位.

目的 探讨ETFDH基因突变致核黄素反应性脂质沉积性肌病(Riboflavin-responsive lipid storage myopathy,RR-LSM)的临床、病理和ETFDH基因突变特点.方法 回顾性分析2009年1月-2020年12月就诊于我院,经肌肉活检病理确诊和基因检测证实的18例RR-LSM患者的临床和病理资料,并采取外周血DNA进行Illu-mina NovaSeq高通量测序,进行数据读取和生物信息学分析.结果 18例患者中男女各9例,发病年龄9～60岁,平均(29.83±13.44)岁,病程1 m～22 y,平均4.5 y.主要临床表现为肢体近端无力和运动不能耐受,伴颈伸肌无力14例,咀嚼肌无力9例,吞咽困难5例,恶心纳差5例,少数患者伴有肌肉疼痛和呼吸困难.本组患者肌肉病理均可见肌纤维内有大量脂质沉积,5例可见少量坏死肌纤维,伴有CD68(+)的巨噬细胞浸润.18例患者经核黄素治疗均获得良好疗效.本组病例均检测到ETFDH基因突变,其中复合杂合突变15例(83.3％),单一杂合突变2例(11.1％),纯合突变1例(5.6％).共发现20个突变位点,其中频率最高的突变位点为c.770A>G,占等位基因的19.4％(7/36),其次为c.1454C>G,占等位基因的8.3％(3/36).结论 ETFDH基因突变所致的RR-LSM患者以躯干中轴肌和咀嚼肌受累为特点,肌肉病理发现肌纤维内有大量脂质沉积是诊断的重要依据.c.770A>G和c.1454C>G是本组病例ETFDH基因最常见的突变位点.

1 病例介绍 患者女性,33岁,因"左侧肢体无力进行性加重5天"于2020年7月29日入院.患者5?d前无明显诱因出现左侧肢体无力,初起可自行行走,持物不稳,无言语不利、饮水呛咳,无头痛头晕、肢体麻木或抽搐,无二便失禁,无意识、视听障碍.外院以"缺血性卒中"收住院治疗,住院期间发现血压和血糖增高,最高血压155/90?mmHg(1?mmHg=0.133?kPa)(具体用药不详),左侧肢体无力进行性加重,出现左侧上肢不能活动、下肢无法站立行走.为求进一步治疗,遂至焦作市人民医院就诊.

肉芽肿性肌炎(GrM)是一组发生在横纹肌的非特异性上皮样肉芽肿性炎性反应综合征,临床上多表现为肌痛、肌无力、皮下结节和吞咽困难,可有肌酶不同水平的升高、炎性肌病的神经电生理表现.病理检查是确诊的主要手段,典型的肌肉病理可发现多核巨细胞和肌纤维炎性改变.肉芽肿性肌炎最常与结节病和结缔组织疾病伴发[1],少有同时合并重症肌无力的病例报道.我们在临床中发现了1例罕见的重症肌无力合并肉芽肿性肌炎的患者,从诊断和治疗过程中吸取了一定的经验教训,现对该病例和文献报道的7例类似病例进行分析,初步概括其特点,为临床同道提供借鉴.

Abstract Aims/Introduction Carpal tunnel syndrome (CTS) and diabetic polyneuropathy (DPN) can occur together, and this concomitance is thought to be higher in diabetes patients. We aimed to examine and compare hand function in type 2 diabetes mellitus patients without CTS and DPN (CTS−DPN−), patients with CTS without DPN (CTS+DPN−), patients with DPN without CTS (CTS−DPN+), and patients with CTS and DPN (CTS+DPN+). Materials and Methods A total of 161 type 2 diabetes mellitus patients underwent physical examination and electrodiagnostic tests. Grip and pinch strengths, tactile sensory thresholds were measured for each participant. Purdue pegboard test was used in evaluating the hand dexterity of the participants. Results Of the 161 type 2 diabetes mellitus participants, 36 (22.4%) had both CTS and DPN. CTS participants had lower grip (26.6 ± 10.6 vs 35.2 ± 14.3, P < 0.001) and pinch (6.3 ± 2.6 vs 7.5 ± 2.9, P = 0.026) strengths compared with non‐CTS participants, whereas DPN participants had elevated tactile sensory thresholds of both the second (2.8 [2.8–3.6] vs 2.4 [2.4–2.8], P < 0.001) and the fifth (2.8 [2.8–3.6] vs 2.4 [2.4–2.8], P < 0.001) fingers compared with non‐DPN participants. The CTS+DPN+ group had lower Purdue pegboard test scores than other groups. Grip (r = 0.482, 0.530, 0.467, 0.498, all P < 0.001) and pinch (r = 0.246, P = 0.003; r = 0.265, P = 0.001; r = 0.264, P = 0.001; r = 0.235, P = 0.005) strengths were positively correlated with Purdue pegboard test scores, whereas tactile sensory thresholds were negatively correlated with Purdue pegboard test scores (r = −0.447 to −0.359, all P < 0.001). Conclusion Type 2 diabetes mellitus patients with both DPN and CTS had lower grip and pinch strengths and decreased tactile sensation, both of which were correlated with poorer hand dexterity.

1 病例介绍 患者女性,66岁,主因"头晕、意识障碍15?min"于2020年9月2日09:43急诊入院.患者于15?m i n前行走中突发头晕,随即出现意识不清、摔倒在地,无恶心、呕吐、肢体抽搐及大小便失禁,家属打120送至我院.

目的 探讨杆状体肌病的临床特点、肌肉MRI改变和基因突变.方法 回顾性分析1例NEB基因新复合杂合突变致儿童型杆状体肌病患者的临床资料.结果 本例患者为男性,6岁发病,以双下肢远端无力起病,逐渐向近端发展,14岁行肌肉活检在肌纤维内发现大量杆状体而被确诊,29岁复诊时做基因检测明确为NEB基因突变.双下肢肌肉MRI提示双侧股外侧肌、股中间肌、大收肌萎缩并脂肪变性.双侧比目鱼肌脂肪变性并萎缩,腓肠肌内侧头和胫前肌水肿.与文献报道不同的是本例患者双下肢远端无力明显重于近端,且发病23年仍未累及颈肌和上肢肌肉.基因检测发现NEB基因有两处杂合突变,c.2549delA发生移码变异,c.21522+3A>G发生点突变,家系验证结果显示这两处杂合突变分别来自其父亲和母亲.目前文献报道NEB基因已发现有312种突变,本例发生在第27号外显子上的c.2549delA突变,在人类基因数据库和HGMDpro数据库中亦均未见有报道,为新发现的突变位点.结论 杆状体肌病临床表型异质性较大,肌肉病理和基因检测是诊断的重要依据,c.2549delA为NEB基因新发的突变位点.

目的 探讨伴骨骼肌损害的嗜酸性肌筋膜炎的临床特点及病理改变.方法 对5例伴骨骼肌损害的嗜酸性肌筋膜炎的临床特征及组织病理学进行回顾性分析,采用免疫组化EnVision法检测淋巴细胞CD4、CD8、CD20和CD68的表达,并复习相关文献.结果 5例患者临床主要表现为不同程度的肢体肿胀,肌肉疼痛无力,均以肢体远端为主.其中4例患者局部皮肤有色素沉着和橘皮样改变,3例出现双手握拳困难,呈"空心拳"征.肌电图检查肌源性损害4例,血清肌酸激酶升高3例.5例患者骨骼肌和筋膜组织病理活检:均可见不同程度的肌筋膜增厚和小血管增多,并伴有炎性细胞浸润.在与深筋膜相邻的骨骼肌组织中可见部分肌纤维变性坏死,伴炎性细胞浸润.免疫组化提示炎性细胞主要为CD8+和CD68+淋巴细胞浸润.结论 嗜酸性肌筋膜炎可累及相邻的骨骼肌组织引起肢体远端无力,肌肉和筋膜组织活检是确诊的重要手段.

线粒体神经胃肠型脑肌病(mitochondrial neurogastroint-estinal encephalomyopathy,MNGIE)是一种罕见的常染色体隐性遗传的多系统疾病,由于核基因TYMP突变导致胸苷磷酸化酶(thymidine phosphorylase,TP)缺陷所致[1].TP的活性降低或缺失,可导致脱氧胸苷和脱氧尿嘧啶核苷在组织中的蓄积,引起线粒体功能的异常,从而导致患者出现多系统受累的临床症状.MNGIE典型的临床症状包括严重的胃肠动力障碍、脑白质病变、眼外肌麻痹、周围神经病变和肌肉萎缩[2].自2012年许二赫等首次在国内报道了该病以来[3],目前国内约有13例MNGIE的相关报道[4-8].本文报告1例经肌肉病理与基因检测共同确诊的MNGIE患者,与以往文献报道不同的是本例患者的脑影像不仅有脑白质病变,而且有双侧基底节区和小脑齿状核病变.基因检测发现TYMP基因在7号和10号外显子区域分别有c.914T＞C和c.1319T＞C两处新发的错义突变,扩展了TYMP基因的变异谱系.

Objective : To investigate the clinical features, skeletal muscle imaging, muscle pathology, blood smear and so on of neutral lipid storage disease with myopathy (NLSDM) caused by PNPLA2 gene mutation. Methods : The clinical data, skeletal muscle imaging, pathological data, and genetic test results of a patient with NLSDM treated in our hospital were collected in detail, and the previous literature was reviewed and compared. Results : The main symptoms were muscle weakness and muscular atrophy. Pathological findings of muscle biopsy showed fat deposition in muscle fibers with border cavitation. Fatty droplets were seen in the cytoplasm of neutrophils in peripheral blood. Magnetic resonance imaging of the muscles of both lower extremities showed that muscle in the thigh vastus intermedius , lateral muscles, biceps, and the muscle abdominal area of the middle leg were filled or replaced by fat. Genetic test results suggested mutations in the PNPLA2 gene. Conclusion : NLSDM is a rare clinical myopathy with abnormal lipid metabolism. Characteristic changes can be seen in skeletal muscle imaging and pathology. The detection of PNPLA2 gene mutation is an important basis for diagnosing NLSDM. Asymmetry and progressive limb weakness are the clinical features. Muscle MRI is mainly involved in the posterior group of the lower limbs. Jordans bodies in the peripheral blood smear and a large number of coarse-grained lipid deposits with rimmed vacuoles in muscle fibers are the characteristic pathological changes.

Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults. Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-onset GSD IIIa in adulthood were collected in detail in November 2019. Results: The proband is a 40-years-old male, who was admitted into our hospital due to a 2-years history of limb weakness. The proband was diagnosed with the following syndrome: he had a 15-years history of elevated muscle enzymes; the cranial nerve examinations showed no abnormal findings; the muscle tension in both upper and lower limbs was low, and tendon reflexes were absent; the proband's muscle strength was 5 in the proximal muscles and 4 in the distal muscles of the upper limbs, with 3 in the proximal muscles and 4 in the distal muscles of the lower limbs; Magnetic Resonance Imaging (MRI) revealed abnormally high signal intensity changes in the posterior thigh muscle group, and the posterior-medial calf muscle group; and vacuoles were evident in some muscle fibers biopsied from the gastrocnemius muscle. Periodic acid-Schiff staining stained the cytoplasm of muscle fibers a dark red color. The proband's older brother exhibited the same clinical features. DNA analysis identified mutations in the AGL gene in the proband, his older brother, and parents. The proband and his older brother both carried two compound heterozygous mutations, c.866G>A and c.2855_2856insT. Pedigree analysis demonstrated that c.866G>A and c.2855_2856insT mutations had been inherited from the mother and father, respectively. Conclusion: Late-onset GSD IIIa in adults is clinically characterized by muscle weakness, muscle atrophy, and mainly occurred in the posterior thigh muscle group. We also identified two novel compound heterozygous mutations (c.866G> A and c.2855_2856insT) in the AGL gene.

The aim of the present study was to explore the clinical, neuroelectrophysiological and muscular pathological characteristics of chronic progressive external ophthalmoplegia (CPEO) and to improve the understanding of CPEO. Clinical manifestations, neuroelectrophysiology and pathological features of muscle biopsies from 12 patients with CPEO were retrospectively analyzed. The average age of onset for the 12 patients (6 males and 6 females) was 17.2 years. All patients had different degrees of blepharoptosis. A total of 11 patients experienced ocular dyskinesia, but diplopia was rare. Electrophysiological testing in 12 patients revealed abnormal changes in 6 patients, including 4 patients with a myogenic lesion, 1 patient with a neurogenic lesion, and 1 patient with mixed myogenic/neurogenic lesions. Two patients had slow sensory nerve conduction velocity. Muscle biopsies in 12 patients demonstrated ragged-red, irregular and broken fibers in 11 patients through Gomori trichrome and hematoxylin and eosin (H&E) staining, increased lipid levels in some muscle fibers in 4 patients through omicron il ed O staining and abnormal distribution of type I and II muscle fibers in 3 patients through ATPase staining. Electron microscopy in 5 patients showed an increased number of mitochondria and abnormal mitochondrial aggregation between submucosa and myofibrils in 4 patients. These findings suggest that the possibility of CPEO should be considered if patients present with obvious extraocular muscle paralysis without diplopia. Furthermore, the identification of ragged-red fibers by Gomori trichrome and H&E staining of muscle biopsies from patients is an important basis for the diagnosis of CPEO.

目的:研究神经导向因子Slit2及其受体Robo1在大鼠脑梗死模型和尤瑞克林干预后的缺血脑组织中的表达变化.方法:54只雄性SD大鼠随机分为假手术组、模型组和尤瑞克林组,再随机分为梗死后缺血1 d、3 d、7 d三个亚组,每组各6只.采用线栓法制备大鼠永久性大脑中动脉缺血(permanent middle cerebral artery occlusion,pMCAO)模型.尤瑞克林组给予尤瑞克林尾静脉注射,模型组给予等体积生理盐水.应用Western-blot方法检测不同时间点Slit2蛋白和内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)在缺血脑组织中的表达情况;RT-PCR方法检测不同时间点Robo1 mRNA的表达情况.结果:与假手术组相比,模型组和尤瑞克林组Slit2蛋白和eNOS蛋白的表达在各时间点均明显增高;尤瑞克林组与模型组相比,两蛋白在各时间点均呈现高表达,差异有统计学意义(P<0.05).且Slit2蛋白和eNOS蛋白的表达变化呈显著正相关(P<0.01).Robo1在模型组和尤瑞克林组中表达较假手术组早期明显降低,在3 d开始上升,呈升高趋势,7 d仍未达到假手术组大鼠的表达水平(P<0.05).结论:局灶性脑梗死后大鼠Slit2蛋白表达升高,且Slit2可能参与大鼠脑梗死后血管新生过程,尤瑞克林可能通过升高Slit2/Robo1促进大鼠脑梗死后的血管新生过程.

亨廷顿病(Huntington disease,HD)又称亨廷顿舞蹈病,是一种常染色体显性遗传性神经变性疾病,主要临床表现为慢性进行性舞蹈样不自主运动、精神障碍和痴呆.IT15基因为HD的致病性基因,IT15基因1号外显子内含有一段多态性三核苷酸( CAG)重复序列,当患者CAG重复拷贝数大于35次时即可引起发病[1].我们收集1例IT15基因变异导致的亨廷顿舞蹈病家系,三代人中共有4例发病,本文对其临床特点、脑影像学改变和基因检测结果进行分析总结,并结合相关文献进行讨论.