Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

Hum Genet. 1993 Mar;91(1):73-7. doi: 10.1007/BF00230227.


The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory. A total of 37 mutant genes have been analysed. The G-->A change destroying the splice donor site of exon 2 is generally associated with more severe disease and was found in 43.2% of mutant ASA genes. The C-->T transition causing a proline to leucine substitution at position 426 in exon 8 (P426-->L) is associated with later onset disease, and was found in 16.2% of mutant genes. The A-->G transition leading to loss of a polyadenylation signal associated with ASA pseudodeficiency was present at a frequency of 7.5% in the patients and heterozygotes studied.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine
  • Adult
  • Age Factors
  • Base Sequence
  • Cerebroside-Sulfatase / genetics*
  • Child
  • Cytosine
  • Exons / genetics
  • Guanosine
  • Humans
  • Leukodystrophy, Metachromatic / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Prevalence
  • Thymidine
  • United Kingdom


  • Guanosine
  • Cytosine
  • Cerebroside-Sulfatase
  • Adenosine
  • Thymidine