A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Lohmann E., Koroglu C. , Hanagasi H. A. , Dursun B., Tasan E., TOLUN A.

PARKINSONISM & RELATED DISORDERS, cilt.18, sa.2, ss.191-193, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Konu: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.parkreldis.2011.10.001
  • Sayfa Sayıları: ss.191-193


We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs. By exome sequencing, we found a homozygous five-nucleotide deletion (c.448_452delAGAAC) in gene Sepiapterin Reductase (SPR). The mutation is predicted to lead to premature translational termination. Sepiapterin reductase deficiency (SRD) is a recently recognized dopa-responsive dystonia. Our findings show that SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease. (C) 2011 Elsevier Ltd. All rights reserved.