Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage

Pediatric Neurology

Volumn 16, Issue 2, 1997, Pages 141-144

  Strømme, Petter ^a   Månsson, Jan Eric ^b   Scott, Helge ^b   Skullerud, Kari ^b   Hovig, Torstein ^b  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN DISEASE; CASE REPORT; DEMENTIA; EPILEPSY; FAILURE TO THRIVE; FEMALE; GM2 GANGLIOSIDOSIS; HUMAN; LYSOSOME; MOTOR NEURON DISEASE; MUSCLE HYPOTONIA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; DEMENTIA; EPILEPSY, TONIC-CLONIC; FAILURE TO THRIVE; FEMALE; G(M2) GANGLIOSIDE; HUMANS; IMMUNOHISTOCHEMISTRY; LYSOSOMAL STORAGE DISEASES; MICROSCOPY, ELECTRON; MOTOR NEURON DISEASE; MUSCLE HYPOTONIA;

EID: 17044460087     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(96)00298-6     Document Type: Article

References (15)

1. Cantz M, Kresse H, Barton RW, Neufeld EF. Corrective factors for inborn errors of mucopolysaccharide metabolism. Methods Enzymol 1972;28:884-97.
2. Kyllerman K, Månsson J-E, Westphal O, Conradi N, Nekstøm H. Infantile Galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. Pediatr Neurol 1993;9:318-22.
3. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al. Group C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochem Biophys Acta 1991;1096:328-37.
4. Ghadially FN. Lysosomes. In: Ultrastructural pathology of the cell and matrix, 3rd ed. London: Butterworths. 1988:589-765.
5. Karlson G, Månsson J-E, Wikstrand C, Bigner DD, Svennerholm L. Characterization of the epitope of the monoclonal antibody Dmab-1 to ganglioside GM2. Biochim Biophys Acta 1990;1043: 267-72.
6. Cordell JL, Falini B, Erber WN, et al. Immunoenzymatic labelling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal antialkaline phosphatase (APAAP-complexes). J Histochem Cytochem 1984;32:219-29.
7. Lake BD. Lysosomal and peroxisomal disorders. In: Hume Adams J, Duchen LW, eds. Greenfield's neuropathology, 5th ed. Oxford, NY: Oxford University Press, 1992:709-810.
8. Goelbel HH. Morphology of gangliosidoses. Neuropediatrics 1984;15(suppl):97-106.
9. Gravel RA, Clarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki K. The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed, New York: McGraw-Hill, 1995:2839-79.
10. Gambetti P, Levine RJ, Grover W, Suzuki K. Accumulation of smooth cisterns, multivesicular bodies and zebra bodies in neurons. A case of peculiar storage condition. Acta Neuropathol (Berl) 1971;18:132-43.
11. Dowson JH, Armstrong D, Koppang N, Lake BD, Jolly RD. Autofluoresence emission spectra of neuronal lipopigment in animal and human ceroidoses (ceroid-lipofuscinoses). Acta Neuropathol (Berl) 1982;58:152-6.
12. Constantopoulos G, Iqbal K, Dekaban AS. Mucopolysaccharidosis types IH, IS, II and IIIa: glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues. J Neurochem 1980; 34:1399-411.
13. Siegel DA, Walkley SU. Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage disease correlates with abnormal accumulation of GM2 ganglioside. J Neurochem 1994;62:1852-62.
14. Walkley SU, March PA. Biology of neuronal dysfunction in storage disorders. J Inher Metab Dis 1993;16:284-7.
15. Walkley SU, Siegel DA, Dobrenis K. GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochem Res 1995;20:1287-99.