A novel GLT8D1 mutation is identified in a Taiwanese individual with amyotrophic lateral sclerosis

Takeaway

  • A novel GLT8D1 variation is identified in 0.2% of an unrelated Taiwanese cohort with amyotrophic lateral sclerosis which impairs GLT8D1 glycosyltransferase activity.

Why this matters

  • GLT8D1 was recently identified as an amyotrophic lateral sclerosis disease gene, with all disease-associated variations located in exon 4.

  • This novel study has identified a new GLT8D1 variation in exon 9, broadening the spectrum of GLT8D1 variations and highlighting the role of GLT8D1 in amyotrophic lateral sclerosis pathogenesis.