| Автор | Gascon, Generoso, G. |
| Автор | Ozand, Pinar, T. |
| Автор | Erwin, Robert, E. |
| Дата выпуска | 1992 |
| dc.description | A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient β-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of G<sub>M1</sub> gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which β-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of G<sub>M2</sub> gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease. (J Child Neurol 1992;7(Suppl):S41-S50.) |
| Издатель | Sage Publications |
| Название | G M1 Gangliosidosis Type 2 in Two Siblings |
| Тип | Journal Article |
| DOI | 10.1177/08830738920070010711 |
| Print ISSN | 0883-0738 |
| Журнал | Journal of Child Neurology |
| Том | 7 |
| Первая страница | S41 |
| Последняя страница | S50 |
| Аффилиация | Gascon, Generoso, G., Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia |
| Аффилиация | Ozand, Pinar, T., Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia |
| Аффилиация | Erwin, Robert, E., Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia |
| Выпуск | 1 |
| Библиографическая ссылка | Norman RM, Urich H., Tingey AH, Goodbody RAF: Tay-Sachs disease with visceral involvement and its relation to Niemann-Pick's disease. J Pathol Bacteriol1959;78:409-421. |
| Библиографическая ссылка | O'Brien JS, Stern MB, Landing BH, et al: Generalized gangliosidosis. Am J Dis Child1965;109:338-346. |
| Библиографическая ссылка | Okada S., O'Brien JS: Generalized gangliosidosis, beta galactosidase deficiency. Science1968;160:1002-1004. |
| Библиографическая ссылка | Lowden JA, Callahan JW, Norman MG, et al: Juvenile GM-1 gangliosidosis: Occurrence with absence of two beta-galactosidase components. Arch Neurol1974;31:200-203. |
| Библиографическая ссылка | Wenger DA, Goodman SI, Myers GG: Beta-galactosidase deficiency in young adults. Lancet1974;2:1319-1320. |
| Библиографическая ссылка | Wenger DA, Sattler M., Mueller OT, et al: Adult GM1-gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1-gangliosidosis . Clin Genet 1980;17:323-334. |
| Библиографическая ссылка | Derry DM, Fawcett JS, Andermann F., Wolfe LS: Late infantile systemic lipidosis (major monosialogangliosidosis; delineation of two types). Neurology1968;18:340-347. |
| Библиографическая ссылка | Wolfe LS, Callahan J., Fawcett JS, et al: GM1-gangliosidosis without chondrodystrophy or visceromegaly . Neurology 1970;20:23-43. |
| Библиографическая ссылка | O'Brien JS, Ho MW, Veath ML, et al: Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies. Clin Genet1972;3:411-434. |
| Библиографическая ссылка | Booth CW, Gerbie AB, Nadler HL: Intrauterine detection of GM1-gangliosidosis, type 2. Pediatrics1973;52:521-524. |
| Библиографическая ссылка | Patel V., Goebel HH, Watanabe I., Zeman W.: Studies on GM-1 gangliosidosis, type II. Arch Neuropathol (Berl) 1974; 30:155-173. |
| Библиографическая ссылка | Stevenson RE , Taylor HAJr, Parks SE: Beta-galactosidase deficiency: Prolonged survival in three patients following early central nervous system deterioration . Clin Genet 1978; 13:305-313. |
| Библиографическая ссылка | Lowden JA, Callahan JW, Gravel RA, et al: Type 2 GM1 gangliosidosis with long survival and neuronal ceroid lipofuscinosis. Neurology1981;31:719-724. |
| Библиографическая ссылка | Kikuchi K., Minami R., Kudoh T., et al: A case of type 2 GM1-gangliosidosis with long survival. Brain Dev1982;4:153-156. |
| Библиографическая ссылка | Radin NS: Preparation of lipid extracts. Methods Enzymol1969;14:245-254. |
| Библиографическая ссылка | Sweeley CC: Chromatography on columns of silicic acid. Methods Enzymol1969;14:255-272. |
| Библиографическая ссылка | Rouser G., Kritchevsky G., Yamamoto A., et al: Diethylaminoethyl and triethylaminoethyl cellulose column chromatographic procedures for phospholipids, glyco-lipids and pigments. Methods Enzymol1969;114:272-317. |
| Библиографическая ссылка | Radin NS, Hof L., Bradley RM, Brady RO: Lactosylceramide galactosidase: A comparison with other sphingolipid hydro-lases in developing rat brain. Brain Res1969;14:497-505. |
| Библиографическая ссылка | Ozand PT, Gascon G., Al Aqeel A., et al: Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherited Metab Dis1990 ;13:849-861. |
| Библиографическая ссылка | Raghavan S. , Krusell A., Lyerla TA, et al: Gm2 ganglioside metabolism in cultured human skin fibroblasts: Ambiguous diagnosis of Gm2 gangliosidosis. Biochem Biophys Acta 1985 ; 834:238-248. |
| Библиографическая ссылка | Charrow J., Binns HJ: Ganglioside loading of cultured fibroblasts: A provocative method for the diagnosis of the Gm2 gangliosidoses. Clin Chem Acta1986;156:41-50. |
| Библиографическая ссылка | Ozand PT, Gascon GG: Organic Acidurias: A Review: Parts I and II. J Child Neurol1991;6:196-219, 288-303. |
| Библиографическая ссылка | Ikeda A., Kakigi R., Funai N., et al: Cortical tremor: A variant of cortical reflex myoclonus. Neurology1990;40:1561-1565. |
| Библиографическая ссылка | Halliday AM : The electrophysiological study of myoclonus in man. Brain 1967;90:241-284. |
| Библиографическая ссылка | Shibasaki H. , Yamanshita Y., Neshige R., et al: Pathogenesis of somatosensory evoked potentials in progressive myoclonic epilepsy. Brain 1985;108:225-240. |
| Библиографическая ссылка | Pampiglione G., Harden A.: Neurophysiological investigations in GM1 and GM2 gangliosidoses. Neuropediatrics1984 ; 15(Suppl):74-84. |
| Библиографическая ссылка | Lombroso CT : Early myoclonic encephalopathy, early infantile epileptic encephalopathy, benign and severe infantile myoclonic epilepsies: A critical review and personal contributions. J Clin Neurophys 1990;7:380-408. |
| Библиографическая ссылка | Roger J., Dravet C., Bureau M., et al: Epileptic Syndromes in Infancy, Childhood and Adolescence. London, John Libbey, 1985. |
| Библиографическая ссылка | Electro-Clinical Syndromes in Infancy. J Clin Neurophysiol1990;7(Special Issue). |
| Библиографическая ссылка | Bischel M., Austin J., Kemeng M.: Metachromatic leukodystrophy (MLD): VIII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues. Arch Neurol1966; 15:113-128. |
| Библиографическая ссылка | Shows TB, Scrafford-Wolff L., Brown JA, Meisler M.: Assignment of a beta galactosidase gene (Beta-Gal A) to chromosome 3 in man . Cytogenet Cell Genet 1978;22:219-222. |
| Библиографическая ссылка | Heyworth CM , Neumann EF, Wynn CH: The stability and aggregation properties of human acid beta-D-galactosidase. Biochem J 1981;193:773-779. |
| Библиографическая ссылка | Sips HJ, Dewit-Verbeek HA, Dewit J., et al: The chromosomal localization of human beta-galactosidase revisited: A locus for beta-galactosidase human chromosome 3 and for its protective protein on human chromosome 22. Hum Genet1985;69:340-344. |
| Библиографическая ссылка | D'Azzo A.: Galactosialidosis: The first lysosomal protease deficiency ?Present at the Vth International Congress Inborn Errors of Metabolism , Pacific Grove, CA, June 1-5, 1990 . |
| Библиографическая ссылка | D'Azzo A., Hoogeveen A., Reuser ADJ, et al: Molecular defect in combined beta-galactosidase and neuraminidase deficiency. Proc Natl Acad Sci USA1982;79:4535-4539. |
| Библиографическая ссылка | Hoogeveen AT , Verheijen FW, Galjaard H.: The relationship between human lysosomal beta-galactosidase and its protective protein. J Biol Chem 1983;258:12143-12146. |
| Библиографическая ссылка | Hoogeven AT , Graham-Kawashima H., D'Azzo A., Galjaard H.: Processing of human beta galactosidase in GM1 gangliosidosis and Morquio B syndrome. J Biol Chem 1984; 259:1974-1977. |
| Библиографическая ссылка | Groebe H., Krins M., Schmidberger H., et al: Morquio syndrome (mucopolysaccharidosis IVB) associated with beta galactosidase deficiency: Report of 2 cases. Am J Med Genet1980;32:258-272. |
| Библиографическая ссылка | Hoogeven AT , Reuser AJJ, Kroos M., Galjaard H.: GM1 gangliosidosis: Defective recognition site on beta-galactosidase precursor. J Biol Chem 1986;261:5702-5704. |
| Библиографическая ссылка | Van Diggelen OP, Schramn AW, Sinnott ML, et al: Turnover of beta galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency. Biochem J1981;200:143-151. |
| Библиографическая ссылка | Suzuki K., Suzuki Y.: Globoid cell leukodystrophy (Krabbe's disease). Deficiency of galactocerebroside beta-galactosidase. Proc Natl Acad Sci USA1970;66:302-309. |
