Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy

T. Ohshima, J. Takahashi, H. Tohgi, N. Sakuragawa

Research output: Contribution to journalArticlepeer-review


We performed the genomic analysis of arylsulfatase A (ASA) gene in five Japanese patients with adult-type metachromatic leukodystrophy (MLD) including two sibling cases. Sequencing of amino acid coding region of ASA gene of proband case of family A disclosed 426Pro (CCG)→Leu (CTG) mutation, which was reported to be frequently found in Caucasian patients with late-onset MLD. We developed mismatch primer PCR/RFLP method for detection of this mutation. If 426Pro→Leu mutation exists in genomic DNA, Pst I site is newly created by PCP with a 3'-primer mismatched at one nucleotide. Genomic analysis of family A members using this method revealed that younger patient was homozygote of 426Pro→Leu mutation and patient's parents and her younger brother were heterozygotes, which were confirmed by sequencing of exon 8 of ASA gene. Screening of this mutation using mismatch primer PCR/RFLP method was performed in one sibiling case and one autopsy case. This point mutation was found in the sibling case. These results showed the possibility of world-wide spread of 426Pro→Leu mutation in late-onset MLD patients and usefulness of our mismatch primer PCR/RPLP method for screening of this mutation.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalClinical Neurology
Issue number1
Publication statusPublished - 1994
Externally publishedYes


  • arylsulfatase A
  • metachromatic leukodystrophy
  • point mutation
  • polymerase chain reaction
  • restriction fragment length polymorphism

ASJC Scopus subject areas

  • Clinical Neurology


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