GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

Developmental Medicine and Child Neurology

Volumn 54, Issue 2, 2012, Pages 176-182

  Smith, Nicholas J ^a   Winstone, Anne Marie ^b   Stellitano, Lesley ^b   Cox, Timothy M ^a   Verity, Christopher M ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

ARTICLE; ATAXIA; CELL VACUOLE; CHILDHOOD DISEASE; CONSTIPATION; DEATH; ETHNICITY; GAIT DISORDER; GM2 GANGLIOSIDOSIS; HIRSCHSPRUNG DISEASE; HUMAN; INFANT DISEASE; JUVENILE ONSET DISEASE; LOUDNESS RECRUITMENT; LYSOSOME; MAJOR CLINICAL STUDY; MENTAL DETERIORATION; MORTALITY; MUSCLE HYPERTONIA; NERVE DEGENERATION; OBSESSIVE COMPULSIVE DISORDER; PAKISTAN; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESPIRATORY FAILURE; SANDHOFF DISEASE; SEIZURE; STRABISMUS; TAY SACHS DISEASE; UNITED KINGDOM; VISUAL IMPAIRMENT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMMUNITY HEALTH PLANNING; FEMALE; GANGLIOSIDOSES, GM2; GREAT BRITAIN; HUMANS; INFANT; MALE; NEURODEGENERATIVE DISEASES; PEDIATRICS; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 84855607429     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04160.x     Document Type: Article

References (40)

1. Sandhoff K, Christomanou H. Biochemistry and genetics of gangliosidoses. Hum Genet 1979; 50: 107-43.
2. Sandhoff K, Andreae U, Jatzkewitz H. Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci 1968; 7: 283-8.
3. Krivit W, Desnick RJ, Lee J, et al. Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff disease [variant of Tay-Sachs disease]. Am J Med 1972; 52: 763-70.
4. Johnson WG. The clinical spectrum of hexosaminidase deficiency disease. Neurology 1981; 31: 1453-6.
5. Maegawa G, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 2006; 118: e1550-62.
6. Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodney EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 2005; 7: 119-23.
7. Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M, Guazzi GC. The clinical aspects of adult hexosaminidase deficiencies. Dev Neurosci 1991; 13: 280-7.
8. Gravel RA, Kaback MM, Proia RL, Sandhoff K, Suzuki K, Suzuki K. The GM2 gangliosidoses. In: Valle D, Beaudet AL, Vogelstein B, Kinsler KW, Antonarakis SE, Ballabio A, editors. The Online Metabolic & Molecular Bases of Inherited Disease. Scriver's OMMBID. New York: McGraw-Hill, 2010:.
9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-54.
10. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in the Netherlands. Hum Genet 1999; 105: 151-6.
11. Poupetova H, Ledvinova J, Berna L, Dvorakova L, Kozich V, Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 2010; 33: 387-96.
12. Mitchell JJ, Capua A, Clow C, Scriver CR. Twenty-year outcome analysis of genetic screening program for Tay-Sachs and β-thalassemia disease carriers in high schools. Am J Hum Genet 1996; 59: 793-8.
13. Charrow J. Ashkenazi Jewish genetic disorders. Fam Cancer 2004; 3: 201-6.
14. Sutton VR. Tay-Sachs disease screening and counselling families at risk for metabolic disease. Obstet Gynecol Clin North Am 2002; 29: 287-96.
15. Van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM. Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. J Med Genet 1996; 33: 829-32.
16. Andermann E, Scriver CR, Wolfe LS, Dansky L, Andermann F. Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res 1977; 18: 161-88.
17. McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG. The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. Am J Hum Genet 1992; 51: 1071-7.
18. Der Kaloustian VM, Khoury MJ, Hallal R, et al. Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. Am J Hum Genet 1981; 33: 85-9.
19. Drousiotou A, Stylianidou G, Anastasiadou V, et al. Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community. Hum Genet 2000; 107: 12-17.
20. Kremer RD, Boldini CD, Capra AP, et al. Sandhoff disease: 36 cases from Cordoba, Argentina. J Inherit Metab Dis 1985; 8: 46.
21. Burton H, Levene S, Alberg C, Stewart A. Tay Sachs Disease Carrier Screening in the Ashkenazi Jewish population. A Needs Assessment and Review of Current Services. Cambridge: PHG Foundation, 2009.
22. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease - carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993; 270: 2307-15.
23. Kaback MM. Screening and prevention in Tay-Sachs disease: origins, update, and impact. Adv Genet 2001; 44: 253-65.
24. Verity C, Preece M. Surveillance for rare disorders by the BPSU. The British Paediatric Surveillance Unit. Arch Dis Child 2002; 87: 269-71.
25. Della Pergola S. World Jewish Population. In: Singer D, Grossman L, editors. The American Jewish Year Book, Vol. 107. New York: American Jewish Committee, 2007: 551-600.
26. Birth statistics. In: Review of the National Statistician on births and patterns of family building in England and Wales, 2007. Series FM1 No. 36 [Internet]. Office for National Statistics: online edition, 2008 Available at.
27. Matheson J. National Statistician's Annual Article on the Population: A Demographic Review [Internet]. Office for National Statistics: online edition, 2008 Available at.
28. Devereux G, Stellitano L, Verity CM, Nicoll A, Rogers P. Variations in neurodegenerative disease across the UK; findings from the national study of Progressive Intellectual and Neurological Deterioration (PIND). Arch Dis Child 2004; 89: 8-12.
29. Myerowitz R. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. Hum Mutat 1997; 9: 195-208.
30. Mahuran DJ, Triggs-Raine BL, Feigenbaum AJ, Gravel RA. The molecular basis of Tay-Sachs disease: mutation identification and diagnosis. Clin Biochem 1990; 23: 409-15.
31. Conzelmann E, Sandhoff K. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 19831984; 6: 58-71.
32. Neufeld EF. Natural history and inherited disorders of a lysosomal enzyme, β-hexosaminidase. J Biol Chem 1989; 264: 10927-30.
33. Brady RO. Ophthalmologic aspects of lipid storage diseases. Ophthalmology 1978; 85: 1007-13.
34. Kivlin JD, Sanborn GE, Myers GG. The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol 1985; 17: 356-60.
35. Maegawa GH, Tropak M, Buttner J, et al. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem 2007; 282: 9150-61.
36. Tropak MB, Mahuran D. Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells. FEBS J 2007; 274: 4951-61.
37. Clarke JT, Mahuran DJ, Sathe S, et al. An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). Mol Genet Metab 2011; 102: 6-12.
38. Batista L, Miller F, Clave C, et al. Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease? Neurobiol Dis 2010; 37: 656-60.
39. Cachon-Gonzalez MB, Wang SZ, Lynch A, Zeigler R, Cheng SH, Cox TM. Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci USA 2006; 103: 10373-8.
40. Martino S, Marconi P, Tancini B, et al. A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. Hum Mol Genet 2005; 14: 2113-23.