Metachromatic leukodystrophy: Molecular genetics and an animal model

Journal of Inherited Metabolic Disease

Volumn 21, Issue 5, 1998, Pages 564-574

  Gieselmann, V ^a   Matzner, U ^a   Hess, B ^a   Lullmann Rauch R ^a   Coenen, R ^a   Hartmann, D ^a   D'Hooge, R ^b   Dedeyn, P ^b   Nagels, G ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; MYELIN; SPHINGOLIPID;

ALLELE; ASTROCYTE; ASTROCYTOSIS; CEREBELLUM; CONFERENCE PAPER; DEMYELINATION; ENZYME DEFICIENCY; GANGLION; GENE MUTATION; HUMAN; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; MOLECULAR CLONING; MOLECULAR GENETICS; NERVE CELL; OLIGODENDROGLIA; PHENOTYPE; PURKINJE CELL;

ANIMALS; CEREBROSIDE-SULFATASE; DISEASE MODELS, ANIMAL; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MICE; MICE, MUTANT STRAINS;

EID: 0031873442     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005471106088     Document Type: Conference Paper

References (49)

1. Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53: 330-338.
2. Barth ML, Fensom A, Harris A (1993a) Prevalence of common mutations in the arylsulfatase A gene in metachromatic leukodystrophy patients diagnosed in Great Britain. Hum Genet 91: 73-77.
3. Barth ML, Fensom A, Harris A (1993b) Missense mutations in the arylsulfatase A gene of metachromatic leukodystrophy patients. Hum Mol Genet 2: 2117-2121.
4. Barth ML, Ward C, Harris A, Saad A, Fensom A (1994) Frequency of arylsulfatase A pseudodeficiency associated mutations in a healthy population. J Med Genet 31: 667-671.
5. Barth ML, Fensom A, Harris A (1995) Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum Mutat 6: 170-176.
6. Ben Yoseph Y, Mitchell DA (1994) Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplifiers. Clin Chim Acta 266: 77-82.
7. Berger J, Molzer B, Gieselmann V, Bernheimer H (1993) Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. Hum Genet 92: 421-423.
8. Berger J, Gmach M, Fau I, Molzer B, Bernheimer H (1996) A new polymorphism of arylsulfatase A within the coding region. Hum Genet 98: 348-350.
9. Bohne W, von Figura K, Gieselmann V (1991) An 11bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy. Hum Genet 87: 155-158.
10. Brown FR, Shimizu H, McDonald YM, et al (1981) Auditory evoked brainstem response and high performance liquid chromatography sulfatase assay as early indices of metachromatic leukodystrophy. Neurology 31: 980-986.
11. Caillaud C, Blanchot C, Akli S, et al (1993) Molecular basis of late infantile metachromatic leukodystrophy in France. ESGLD Workshop, Delphi, Greece, Oct 1993, Abstract.
12. Coulter-Mackie MB, Gagnier L, Beis MJ, et al (1997) Metachromatic leukodystrophy in three families from Novia Scotia, Canada: a recurring mutation in the arylsulphatase A gene. J Med Genet 34: 493-498.
13. Fluharty AL, Fluharty CB, Bohne W, von Figura K, Gieselmann V (1991) Two new arylsulfatase A mutations in a juvenile metachromatic leukodystrophy patient. Am J Hum Genet 49: 1340-1350.
14. Gieselmann V, Polten A, Kreysing J, von Figura K (1989) Arylsulfatase A pseudodeficiency : loss of a N-glycosylation site and a polyadenylation signal. Proc Natl Acad Sci USA 86: 9436-9440.
15. Gieselmann V, Polten A, Kreysing J, et al (1991a) Mutations in arylsulfatase A alleles causing metachromatic leukodystrophy. Brain Dysfunc 4: 235-243.
16. Gieselmann V, Fluharty AL, Tonnesen T, von Figura K (1991b) Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet 49: 407-413.
17. Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4: 233-242.
18. Gustavson K, Hagberg B (1971) The incidence and genetics of metachromatic leukodystrophy in Northern Sweden. Acta Pediatr Scand 60: 585-590.
19. Harvey JS, Nelson P, Carey WF, Robertson EF, Morris CP (1993) An arylsulfatase A (ARSA) missense mutation (T274M) causing late infantile metachromatic leukodystrophy. Hum Mutat 2: 261-267.
20. Harvey JS, Carey WF, Nelso PV, Morris CP (1994) Metachromatic leukodystrophy : a nonsense mutation (Q 486 X) in the arylsulfatase A gene. Hum Mol Genet 3: 207.
21. Hasegawa Y, Kawame H, Eto Y (1993) Mutations in the arylsulfatase A gene of patients with metachromatic leukodystrophy. DNA Cell Biol 12: 493-498.
22. Hasegawa Y, Kawame H, Ida H, Ohashi I, Eto Y (1994) Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. Hum Genet 93: 415-420.
23. Hawley RG, Lieu FHL, Fong AZC, Hawley TS (1994) Versatile retroviral vectors for potential use in gene therapy. Gene Ther 1: 136-138.
24. Heinisch U, Kafert S, Zlotogora J, Gieselmann V (1995) Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56: 51-57.
25. Hess B, Kafert S, Heinisch U, Wenger DA, Zlotogora J, Gieselmann V (1996a) Characterization of two arylsulfatase A missense mutations Asp335 > Val and Thr274 > Met causing late infantile metachromatic leukodystrophy. Hum Mutat 7: 311-317.
26. Hess B, Saftig P, Hartmann D, et al (1996b) Phenotype of arylsulfatase A deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci USA 93: 14821-14826.
27. Honke K, Kobayashi T, Fujii T, et al (1993) An adult type metachromatic leukodystrophy caused by substitution of serine for glycine 122 in arylsulfatase A. Hum Genet 92: 451-456.
28. Kafert S, Heinisch U, Zlotogora J, Gieselmann V (1995) A Pro 136 > Leu substitution in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Hum Genet 95: 201-204.
29. Kappler J, von Figura K Gieselmann V (1992) Late onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann Neurol 31: 256-260.
30. Kappler J, Sommerlade HJ, von Figura K Gieselmann V (1994) Complex arylsulfatase A alleles causing metachromatic leukodystrophy. Hum Mutat 4: 119-127.
31. Kolodny EH, Fluharty AL (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2693-2740.
32. Kondo R, Wakamatsu N, Yoshino H, Fukuhara N, Miyatake T, Tsuji S (1991) Identification of a mutation in the arylsulfatase A gene of a patient with adult type metachromatic leukodystrophy. Am J Hum Genet 48: 971-978.
33. Kreysing J, von Figura K, Gieselmann V (1990) Structure of the human arylsulfatase A gene. Eur J Biochem 191: 627-631.
34. Krall WJ, Challita PM, Perlmutter LS, Skelton DC, Kohn DB (1994) Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood 83(9): 2737-2748.
35. Kreysing J, Bohne W, Bösenberg C, et al (1993) High residual arylsulfatase A activity in a patient with late infantile metachromatic leukodystrophy. Am J Hum Genet 53: 339-346.
36. Kreysing J, Polten A, Hess B, et al (1994) Structure of the mouse arylsulfatase A gene and cDNA. Genomics 19: 249-256.
37. Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG (1995) The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inher Metab Dis 18: 398-412.
38. Kudoh T, Wenger DA (1982) Diagnosis of metachromatic leukodystrophy, Krabbe disease and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. J Clin Invest 70: 89-97.
39. Leinekugel P, Michel S, Conzelmann E, Sandhoff K (1992) Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88: 513-523.
40. Learish R, Ohashi T, Robbins PA, et al (1996) Retroviral gene transfer and sustained expression of human arylsulfatase A. Gene Ther 3: 343-349.
41. Luyten JA, Wenink PW, Steenbergen-Spangers GC, et al (1995) Metachromatic leukodystrophy: a 12 bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant. Hum Genet 96: 357-360.
42. Ohashi T, Watabe K, Sato Y, Saito I, Barranger JA, Eto Y (1995a) Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector. Gene Ther 2: 443-449.
43. Ohashi T, Matalon R, Barranger JA, Eto Y (1995b) Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype. Gene Ther 2: 363-368.
44. Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA (1994) Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. Hum Mutat 4: 199-207.
45. Penzien J, Kappler J, Herschkowitz N, et al (1993) Compound heterozygosity for arylsulfatase A alleles causing metachromatic leukodystrophy and pseudodeficiency has no apparent clinical consequences. Am J Hum Genet 52: 557-564.
46. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K Gieselmann V (1991) Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 324: 18-22.
47. Regis S, Carozzo R, Filocamo M, Serra G, Mastropaolo C, Gatti R (1995) An AT deletion causing a frameshift in the arylsulfatase A gene of a late infantile patient. Hum Genet 96: 233-235.
48. Wei JF, Wei FS, Samulski RJ, Barranger JA (1994) Expression of the human glucocerebrosidase and arylsulfatase A gene in murine and patient fibroblasts transduced by an adeno associated virus vector. Gene Ther 4: 261-268.
49. Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V (1995) Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. Hum Mutat 5: 137-143.