Adult form of GM2 gangliosidosis: Three siblings with hexosaminidase A and B deficiency (Sandhoff disease) and review of literature;Adulte form der GM2-gangliosidose: Drei geschwister mit hexosaminidase-A- und -B-mangel (morbus Sandhoff) und literaturübersicht

Schweizerische Medizinische Wochenschrift

Volumn 126, Issue 18, 1996, Pages 757-764

  Schnorf, H ^a,b   Bosshard, N U ^a   Gitzelmann, R ^a   Spycher, M A ^a   Isler, P ^a   Waespe, W ^a  

^a Universitats Kinderklinik   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; GANGLIOSIDE GM2; BETA N ACETYLHEXOSAMINIDASE;

ADULT; AGED; ARTICLE; ATAXIA; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GANGLIOSIDOSIS; HUMAN; LEUKOCYTE; MALE; POLYNEUROPATHY; SANDHOFF DISEASE; SPINAL MUSCULAR ATROPHY; BLOOD; BRAIN; ELECTRON MICROSCOPY; ENZYMOLOGY; MIDDLE AGED; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; REVIEW; SKIN; ULTRASTRUCTURE;

AGED; BETA-N-ACETYLHEXOSAMINIDASE; BRAIN; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; NEURAL CONDUCTION; SANDHOFF DISEASE; SKIN;

EID: 0029664288     PISSN: 14247860     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. M2-Gangliosidoses. In: Scriver CR et al. (Hrsg): The metabolic and molecular bases of inherited disease. New York: Mc Graw-Hill, 1995: 2839-2879.
2. Neote K, Mahuran DJ, Gravel RA: Molecular genetics of β-hexosaminidase deficiencies. Adv Neurol 1991; 56: 189-207.
3. Tay W: Symmetrical changes in the region of the yellow spot in each eye of an infant. Trans Ophthalmol Soc UK 1881; 1: 55-57.
4. Sachs B: On arrested cerebral development with special reference to its cortical pathology. J Nerv Ment Dis 1887; 14: 541-553.
5. Okada S, O'Brien JS: Tay-Sachs disease: generalized absence of a β-D-N-acetylhexosaminidase component. Science 1969; 165: 698-700.
6. Sandhoff K, Andreae U, Jatzkewitz H: Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Pathol Eur 1968; 3: 278-285.
7. A2. Proc Natl Acad Sci USA 1978; 75: 3979-3983.
8. Bernheimer H, Sheitelberger F: Über das Verhalten der Ganglioside im Gehirn bei 2 Fällen von spätinfantiler amaurotischer Idiotie. Wien Klin Wochenschr 1968; 80: 163-169.
9. M2 gangliosidosis: partial deficiency of hexosaminidase A. J Pediatr 1970; 77: 1063-1065.
10. M2 gangliosidosis. Neurology 1970; 20: 848-851.
11. M2 gangliosidosis; clinical variant of Tay-Sachs disease or a new disease. Neurology 1970; 20: 190-204.
12. M2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976; 33: 120-130.
13. Mitsumoto H, Sliman RJ, Schafer IA, Sternick CS, Kaufmann B et al.: Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol 1985; 17: 378-385.
14. M2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic and biochemical studies of nine cases. Neurology 1981; 31: 787-798.
15. M2 gangliosidosis in association with Tay-Sachs disease: a new phenotype. Neurology 1981; 31: 1397-1401.
16. M2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol 1984; 16: 14-20.
17. Karni A, Navon R, Sadeh M: Hexosaminidase A-deficiency manifesting as spinal muscular atrophy of late onset. Ann Neurol 1988; 24: 451-453.
18. Johnson WG, Wigger HJ, Karp HR et al.: Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype. Ann Neurol 1982; 11: 11-16.
19. Kolodny EH, Lyerla T, Raghavan SS, Seashore G, Fogelson H et al.: Significance of hexosaminidase A deficiency in adults [Abstract]. Neurology 1982; 32: A81-82.
20. Dale AJD, Engel AG, Rudd NL: Familial hexosaminidase A deficiency with Kugelberg-Welander phenotype and mental change [Abstract]. Ann Neurol 1983; 14-1: 109.
21. Harding AE, Young EP, Schon F: Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry 1987; 50: 687-690.
22. M2 gangliosidosis [Abstract]. Neurology 1979; 29: 611.
23. Cashman NR, Antel JP, Hancock LW, Dawson G, Horwitz AL et al.: N-Acetyl-β-hexosaminidase β-locus defect and juvenile motor neuron disease: a case study. Ann Neurol 1986; 19: 568-572.
24. Oonk JGW, Van der Helm HJ, Martin JJ: Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters. Neurology 1979; 29: 380-384.
25. Bolhuis PA, Oonk JGW, Kamp PE, Ris AJ, Michalski JC et al.: Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease. Neurology 1987; 37: 75-81.
26. Barbeau A, Plasse L, Cloutier T, Paris S, Roy M: Lyosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians. Can J Neurol Sci 1984; 11: 601:606.
27. M2 gangliosidosis with hexosaminidase A and B defect: report of a family with motor neuron disease-like phenotype. J Inher Metab Dis 1986; 9 (Suppl. 2): 307-310.
28. M2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype. Ital J Neurol Sci 1989; 10: 433-439.
29. Mitsuo K, Nakano T, Kobayashi T, Goto I, Taniike M et al.: Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. J Neurol Sci 1990; 98: 277-286.
30. Rubin M, Karpati G, Wolfe LS, Carpenter S, Klavins MH et al.: Adult onset motor neuron disease in the juvenile type of hexosaminidase A and B deficiency. J Neurol Sci 1988; 87: 103-119.
31. Thomas PK, Young E, King RHM: Sandhoff disease mimicking adult-onset bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry 1989; 52: 1103-1106.
32. Schnorf H, Gitzelmann R, Bosshard NU, Spycher AM, Waespe W: Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). J Neurol Neurosurg Psychiatry 1995; 59: 520-523.
33. M2 gangliosidosis; seizures, dementia and normal pressure hydrocephalus associated with glycolipid storage in the brain and the arachnoid granulation. Neurology 1978; 28: 1117-1123.
34. Wyss SR, Koster JF, Hülsmann WC: Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease). Clin Chim Acta 1971; 35: 277-280.
35. Galjaard H: Genetic metabolic diseases, early diagnosis and prenatal analysis. Amsterdam: Elsevier/North-Holland Biomed Press 1980.
36. M2 gangliosidosis in leukocytes. Clin Genet 1984; 26: 318-321.
37. M2 gangliosidosis genotypes. Clin Chim Acta 1984; 143: 73-89.
38. M2 gangliosidosis. Ann Neurol 1984; 15: 348-352.
39. Hardie RJ, Young EP, Morgan-Hughes JA: Hexosaminidase A deficiency presenting as juvenile progressive dystonia. J Neurol Neurosurg Psychiatry 1988; 51: 446-447.
40. Mac Leod PM, Wood S, Jan JE, Applegarth DA, Dolman CL: Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child; Juvenile Sandhoff disease. Neurology 1977; 27: 571-573.
41. Johnson WG, Chutorian A, Miranda A: A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Neurology 1977; 27: 1013-1018.
42. M2 gangliosidosis of late onset. J Neurol Neurosurg Psychiatry 1972; 35: 685-692.
43. Brzustovicz LM, Lehner T, Castilla LH: Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990; 344: 540-541.
44. Melki J, Abdelhak S, Sheth P: Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990; 344: 767-768.
45. Gudesblatt M, Ludman MD, Cohen JA, Desnick RJ, Chester S et al.: Hexosaminidase activity and amyotrophic lateral sclerosis. Muscle and Nerve 1988; 2: 227-230.
46. Willner JP, Bender AN, Strauss L: Total β-hexosaminidase A deficency in two adult Ashkenazi Jewish siblings; report of a new clinical variant [Abstract]. Am J Hum Genet 1979; 31: 86A.
47. Conzelmann E, Sandhoff K: Biochemical basis of late-onset neurolipidoses. Dev Neurosci 1991; 13: 197-204.
48. Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M et al.: The clinical aspects of adult hexosaminidase deficiencies. Dev Neurosci 1991; 13: 280-287.
49. M2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron phenotype. Clin Neuropathol 1982; 1: 31-14.
50. M2 gangliosidosis: B1 variant as a prototype. Dev Neurosci 1991; 13: 288-294.
51. M2 variant B1: rélévation à adolescence par une atteinte isolée et plurisystématisée du system nerveux central et périphérique. Rev Neurol Paris 1994; 150, 1: 61-66.
52. M2 gangliosidosis. Dev Neurosci 1991; 13: 295-298.
53. Pergament E, Ginsberg N, Verlinsky Y, Cadkin A, Chu L: Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet 1983/II: 286.