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References

These sources were used to develop the Genetics Home Reference condition summary on metachromatic leukodystrophy.

Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. J Clin Neurosci. 2006 May;13(4):443-8. PubMed citation
Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. Eur J Paediatr Neurol. 2008 Jan;12(1):46-50. Epub 2007 Jul 5. PubMed citation
Gene Review: Arylsulfatase A Deficiency
Gieselmann V, Franken S, Klein D, Mansson JE, Sandhoff R, Lüllmann Rauch R, Hartmann D, Saravanan VP, De Deyn PP, D'Hooge R, Van Der Linden AM, Schaeren-Wiemers N. Metachromatic leukodystrophy: consequences of sulphatide accumulation. Acta Paediatr Suppl. 2003 Dec;92(443):74-9; discussion 45. PubMed citation
Gieselmann V, Matzner U, Hess B, Lüllmann-Rauch R, Coenen R, Hartmann D, D'Hooge R, DeDeyn P, Nagels G. Metachromatic leukodystrophy: molecular genetics and an animal model. J Inherit Metab Dis. 1998 Aug;21(5):564-74. Review. PubMed citation
Gieselmann V, Polten A, Kreysing J, Kappler J, Fluharty A, von Figura K. Molecular genetics of metachromatic leukodystrophy. Dev Neurosci. 1991;13(4-5):222-7. Review. PubMed citation
Gieselmann V. Metachromatic leukodystrophy: recent research developments. J Child Neurol. 2003 Sep;18(9):591-4. Review. PubMed citation
OMIM: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS J. 2005 Mar;272(5):1179-88. PubMed citation
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology. 2006 Sep 12;67(5):859-63. PubMed citation
Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis. 2007 Apr;30(2):175-83. Epub 2007 Mar 8. Review. PubMed citation


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