JOURNAL ARTICLE

Researcher at Necmettin Erbakan University Publishes New Data on Metachromatic Leukodystrophy (Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype).

  • Published In: Mental Health Weekly Digest, 2026. P. 2578 1 of 2

  • Database: Psychology Source 2 of 2

Abstract

This article focuses on new research into adult-onset metachromatic leukodystrophy (MLD), a lysosomal storage disorder caused by arylsulfatase A (ARSA) deficiency leading to neurodegeneration with neurological and psychiatric symptoms. Researchers at Necmettin Erbakan University identified a novel genotype involving compound heterozygous variants c.542T>G and c.661T>A in the ARSA gene, which had not been previously reported. The study found that these genetic variants correlate with a distinct clinical phenotype characterized initially by psychiatric symptoms followed by neurological decline. This genotype-phenotype correlation is important for diagnosing and managing adult-onset MLD. [Extracted from the article]

Additional Information

  • Source:Mental Health Weekly Digest. 2026/03, p2578
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2026
  • ISSN:1543-6616
  • Accession Number:192412158
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