Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy


Oender E., Sinici I., Soenmez F. M., TOPÇU M., Oezkara H. A.

NEUROLOGICAL RESEARCH, vol.31, no.1, pp.60-66, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1179/016164108x323762
  • Journal Name: NEUROLOGICAL RESEARCH
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.60-66
  • Hacettepe University Affiliated: Yes

Abstract

Objective: Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B. Enzyme deficiency leads to the accumulation of sulfatide, which results in severe demyelination.