GM2神经节苷脂沉积症（附2例报告）

目的 探讨GM2神经节苷脂沉积症的临床特点和病理改变。方法 报道2例晚发型GM2神经节苷脂沉积症的临床表现,并取2例患者右额叶脑组织进行病理观察。结果 晚发型GM2神经节苷脂沉积症的临床表现无特异性,光镜下神经元呈气球样肿胀,胞浆内有脂质沉积,电镜观察沉积物为膜性胞浆体和斑马体。结论 对临床上疑为GM2神经节苷脂沉积症的患者,脑活检光镜加电镜观察有助于明确诊断。     

GM_2神经节苷脂沉积症(附2例报告)

目的　探讨 GM2 神经节苷脂沉积症的临床特点和病理改变。方法　报道 2例晚发型 GM2 神经节苷脂沉积症的临床表现 ,并取 2例患者右额叶脑组织进行病理观察。结果　晚发型 GM2 神经节苷脂沉积症的临床表现无特异性 ,光镜下神经元呈气球样肿胀 ,胞浆内有脂质沉积 ,电镜观察见沉积物为膜性胞浆体和斑马体。结论　对临床上疑为 GM2 神经节苷脂沉积症的患者 ,脑活检光镜加电镜观察有助于明确诊断     

神经节苷脂GM1治疗神经系统损伤

神经节苷脂ＧＭ_１治疗神经系统损伤陈嘉峰，秦震近年来，许多研究表明，神经节苷脂在神经细胞的分化、发育、神经组织的损伤修复、神经元的可塑性、突触的传递等方面起着极为重要的作用。在神经节苷脂治疗神经系统损伤中研究最多的是单唾液酸神经节苷脂ＧＭ１。ＧＭ１的?..     

婴儿型GM2神经节苷脂沉积症

本文报道１例经光镜和电镜证实的婴儿ＧＭ２神经节苷脂沉积症。记述了临床表现和普通病理的改变，着重描述了脑皮层神经元胞浆内膜性胞浆体、斑马体及胶质细胞胞浆内致密体的超微结构。结合有关文献，讨论了本病的诊断、鉴别诊断，认为对临床上表现为进行性智能衰退伴失明的患儿行脑活检有助于明确诊断。     

神经节苷脂GM1对大鼠脑外伤后脑细胞呼吸功能和结构保护作用

把SD大鼠分成正常组、生理盐水治疗的损伤对照组及GM_1治疗的损伤治疗组。结果发现对照组伤后8h和16h。脑线粒体呼吸功能明显降低,治疗组则明显好转。对照组皮层神经元细胞和线粒体超微结构有明显损害,治疗组损害明显减轻。其可能机制与GM_1保护膜脂和膜酶活性,维持膜内外离子平衡,减轻水肿及减少自由基形成等有关。     

神经节苷脂(GM1)治疗脑梗死的疗效观察

脑梗死可导致患者遗留程度不等的肢体运动、语言等障碍 ,严重者完全需人照料生活 ,因此 ,对脑卒中患者采取积极有效的治疗对提高肌力 ,减少致残率尤为重要 ,我们应用ＧＭ1治疗脑梗死患者 2 0例取得良好效果 ,报告如下。一般资料本文报道两组患者共 4 0例 ,均为我科住院的按中华医学会第四次全国脑血管病学术会议修订的“各类脑血管疾病诊断要点”明确 ,诊断脑梗死患者 4 0例 ,全部经脑ＣＴ证实 :①治疗组 ;男 14例 ,女 6例 ,平均年龄(61 32± 5 14)岁 ;对照组 :男 12例 ,女 8例 ,平均年龄(60 4 6± 4 2 8)岁 ,两组病例的性别、年龄、病情…     

神经生长因子和神经节苷脂的研究进展

1 神经生长因子1.1 神经生长因子的生理作用 NGF最初是从小鼠的颌下腺提取的,许多组织和细胞在人工培养的条件下也可以产生低水平的NGF.其分子量140000左右,有三个亚单位组成(α、β、γ).     

神经节苷脂GM1对蛛网膜下腔出血的治疗

资料与方法 1999年1月～2000年5月我科住院36例蛛网膜下腔出血患者,均经脑CT及腰穿检查确诊。治疗组16例,对照组20例。年龄分别为(53.55±14.28)岁和(51.35±11.34)岁;性别(男/女)分别为6/7和12/8;格拉斯哥昏迷量表GCS分别为6.1±2.6和6.4±1.8。两组具有可比性(P>0.01)。     

格林—巴利综合征中的抗神经节苷脂GM1抗体

采用固相酶联免疫吸附法对３０例格林－巴利综合征患者，３２例其他神经系统疾病患者及９０例健康献血员的血清中抗ＧＭ１ＩｇＭ和ＩｇＧ抗体进行测定。结果表明：格林－巴利综合征患者抗ＧＭ１ＩｇＭ抗体的阳性率为４０％，明显高于其他两个对照组；提示抗ＧＭ１抗体可能在格林－巴利综合征的发病中起重要作用。     

GM2 gangliosidosis in a Japanese Spaniel

Summary A storage disease in a 2-year-old Japanese Spaniel resembled a GM₂ gangliosidosis previously identified in a now extinct line of German Shorthaired Pointers. Despite a later appearance of signs in the Japanese Spaniel, the distribution, staining, and ultrastructure of the stored material were similar in the two breeds. Golgi studies of cerebral cortical neurons revealed the formation of spiny and aspiny enlargements at the axon hillock region (meganeurites) and the growth of secondary neurites from this region. As in the German Shorthaired Pointer model, there was massive storage of GM₂ ganglioside as well as a seemingly paradoxical increase in total -hexosaminidase activity measured in vitro.Supported in part by NIH grants NS-10967, RR-07003, and RR-00463     

GM1 gangliosidosis

Two patients with GM₁ gangliosidosis occurring in Hindu and Muslim patients in India are described. One case belonged to Type I and the other to Type II. The Type I case was similar to those previously described in the literature. The patient belonging to Type II had some differences from those previously described. These differences were: (1) age of onset of the clinical manifestation around the age of 5 years; and (2) the presence of hepatosplenomegaly. Clinically, electroencephalographically and pathologically the case belonging to Type II was more advanced. Total ganglioside accumulation in the Type I case was 10 times the normal whereas in the other case it was near normal. The findings are discussed in relation to those reported in the literature.     

GM2 gangliosidosis variant B1

Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic resonance imaging (MRI) findings from three patients affected by GM2 gangliosidosis variant B1, two presenting with the infantile form and one with the juvenile form. The MRI appearances of the two patients with the infantile form disease are congruent with those reported for the early-onset type of both Tay-Sachs and Sandhoff diseases, and are characterized by early involvement of the basal ganglia and thalamus with cortical atrophy appearing later. In contrast, the patient with the juvenile form of variant B1 showed progressive cortical and white-matter atrophy of the supratentorial structures and, to a lesser extent, the infratentorial structures. No basal ganglia or thalamic anomalies were observed. Because in the adult forms of both Tay-Sachs and Sandhoff diseases a progressive cerebellar atrophy represents the only abnormality detectable, it appears that an MRI pattern peculiar to GM2 gangliosidosis can be defined. This pattern ranges from the basal ganglia injury associated with the early and severe demyelination process noted in the infantile form of the disease, to cerebellar atrophy with no supratentorial anomalies in the adult form. An “intermediate” MRI picture, with cortical atrophy and mild cerebellar atrophy, but without basal ganglia impairment, can be observed in the juvenile form. In addition, our investigations suggest that MRI abnormalities in GM2 gangliosidosis correlate with the clinical form of the disease rather than with the biochemical variant of the enzymatic defect. Received: 9 January 2002, Received in revised form: 26 June 2002, Accepted: 8 July 2002 Correspondence to Paolo Balestri, M. D.     

An inversion of 25 base pairs causes feline GM2 gangliosidosis variant

In G(M2) gangliosidosis variant 0, a defect in the beta-subunit of lysosomal beta-N-acetylhexosaminidase (EC 3.2.1.52) causes abnormal accumulation of G(M2) ganglioside and severe neurodegeneration. Distinct feline models of G(M2) gangliosidosis variant 0 have been described in both domestic shorthair and Korat cats. In this study, we determined that the causative mutation of G(M2) gangliosidosis in the domestic shorthair cat is a 25-base-pair inversion at the extreme 3' end of the beta-subunit (HEXB) coding sequence, which introduces three amino acid substitutions at the carboxyl terminus of the protein and a translational stop that is eight amino acids premature. Cats homozygous for the 25-base-pair inversion express levels of beta-subunit mRNA approximately 190% of normal and protein levels only 10-20% of normal. Because the 25-base-pair inversion is similar to mutations in the terminal exon of human HEXB, the domestic shorthair cat should serve as an appropriate model to study the molecular pathogenesis of human G(M2) gangliosidosis variant 0 (Sandhoff disease).     

Pathologic findings in fetal GM1 gangliosidosis

A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was measurably elevated compared with that of age-matched controls. These data, along with those of others, imply that, if the observed pathologic findings are irreversible, any attempts at intrauterine therapy must commence prior to the middle of the second trimester.     

Neurophysiological studies in GM1, gangliosidosis

Neurophysiological studies(EEG, ERG, VEP) have been carried out on 8 children with proven GM₁ gangliosidosis (3 of Type I and 5 of Type II). All the EEGs were abnormal showing an increasing amount of irregular slow activity as the disease progressed. Around 2 to 3 years of age, Type II patients often showed a fluctuating 4–5 c/s rhythmic activity especially prominent in the temporal regions. Paroxysmal activity was not a conspicuous feature in any of the patients. The ERG was normal in all cases but the VEP was variably altered. The EEG / ERG/ VEP findings in GM₁ gangliosidosis differ from those seen in most other neurometabolic disorders of childhood.