1/7. prenatal diagnosis of GM1-gangliosidosis: biochemical manifestations in fetal tissues.A prenatal diagnosis of GM1-gangliosidosis was made in a pregnancy at risk, on the basis of a deficiency of beta-galactosidase activity demonstrated in cultured amniotic fluid cells. Biochemical analyses were performed in the aborted fetus. GM1-ganglioside beta-galactosidase activity was reduced to 1% of the control value in both the brain and liver of the affected fetus. Lamellar bodies suggestive of membranous cytoplasmic bodies were found in cells of basal ganglions, while the accumulation of GM1-ganglioside in the brain was not remarkable.- - - - - - - - - - ranking = 1keywords = ganglion, basal ganglion (Clic here for more details about this article) |
2/7. Late-infantile type galactosialidosis. Histopathology of the retina and optic nerve.We studied histopathologic findings from the retina and optic nerve of a patient with the late-infantile type of galactosialidosis and related them to clinical features of the condition. Markedly fewer ganglion cells were evident histopathologically using light microscopy. Results of histochemical studies demonstrated abnormal accumulation of lipid and proteinaceous material in the residual swollen ganglion cells. Marked loss of myelinated nerve fibers and thickening of the pial septum were also observed in the optic nerve. Both retinal ganglion cells and amacrine cells had intracytoplasmic inclusion bodies, but none were found in the optic nerve. These findings suggested that optic atrophy was induced by axonal wallerian degeneration secondary to retinal ganglion cell death. Although the fundus showed advanced optic nerve atrophy, a cherry red spot was not evident, possibly because of the marked decrease in ganglion cells in this case.- - - - - - - - - - ranking = 3.2152948637063keywords = ganglion (Clic here for more details about this article) |
3/7. movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase a deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis.- - - - - - - - - - ranking = 0.64305897274127keywords = ganglion (Clic here for more details about this article) |
4/7. Type III (chronic) GM1-gangliosidosis. Histochemical and ultrastructural studies of rectal biopsy.Type III GM1-gangliosidosis is a rare hereditary storage disease caused by lack of lysosomal beta-galactosidase and characterized by a slowly progressive course, and extrapyramidal signs, but without prominent skeletal changes or visceromegaly. The storage substance was reported to be located only in the basal ganglia. There has been no detailed report on visceral lesions in type III GM1-gangliosidosis. In this report we describe a case of type III GM1-gangliosidosis, and the histochemical and ultrastructural findings from biopsied rectum. The patient was a 22-year-old female who exhibited dysarthria, gait disturbance, and generalized dystonia with rigidity. beta-galactosidase activity in leukocytes was absent and sialidase activity in cultured fibroblasts was normal. Many histiocytes were found in biopsied rectal mucosa. Histochemical studies showed that the granules of histiocytes contained acidic glycoconjugates, beta-galactose, beta-N-acetylgalactosamine and sialic acid. Ultrastructural investigations revealed that ganglion cells of Meissner's plexus had many osmiophilic lamellar inclusions, similar to "membranous cytoplasmic bodies". These findings are crucial for the clinical diagnosis of type III GM1-gangliosidosis.- - - - - - - - - - ranking = 0.64305897274127keywords = ganglion (Clic here for more details about this article) |
5/7. gangliosidoses and the fetal retina.Abnormal membranous cytoplasmic inclusions were found in the retinal ganglion cells of two fetuses with gangliosidosis. One was a documented case of incipient tay-sachs disease (Gm2) and the other a case of generalized gangliosidosis (Gm1). Both specimens were obtained iatrogenically in the 20th to 21st week of gestation after amniocentesis had indicated the enzyme deficiency.- - - - - - - - - - ranking = 0.64305897274127keywords = ganglion (Clic here for more details about this article) |
6/7. GM1 gangliosidosis, type 2: ocular clinicopathologic correlation.The clinical and pathological manifestations of a case of juvenile GM1 gangliosidosis are presented and the pathological findings compared with those previously reported for GM1 gangliosidosis in man and in animal models. The most striking finding in the present case was the marked degeneration of the retinal ganglion cell and nerve fiber layers. Although such extensive ganglion cell loss was not observed in any of the other cases reviewed, the presence of multimembranous inclusion bodies in retinal ganglion cells strongly suggests that the pathological process was similar in all cases. Much remains to be learned about the function of gangliosides in the healthy retina and about the pathophysiological consequences of deranged ganglioside metabolism. The many parallels, including those observed in pathological studies, between the human and animal forms of GM1 gangliosidosis allow an optimistic appraisal of the value of further research using the animal models.- - - - - - - - - - ranking = 1.9291769182238keywords = ganglion (Clic here for more details about this article) |
7/7. The ultrastructure of the retina in adult metachromatic leukodystrophy.A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.- - - - - - - - - - ranking = 1.9291769182238keywords = ganglion (Clic here for more details about this article) |