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01-09-2004 | Original Article

Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Authors: Daniela Steinberger, Nenad Blau, Dimitri Goriuonov, Juliane Bitsch, Michael Zuker, Sibylla Hummel, Ulrich Müller

Published in: Neurogenetics | Issue 3/2004

Abstract.

The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase ( SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD). The mutation detected in SPR is a G→A transition at position –13 of the untranslated region of the gene. This resulted in drastically reduced activity of sepiapterin reductase in the patient’s fibroblasts. The findings indicate that haploinsufficiency of SPR can be a rare cause of DRD.

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Title: Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
Authors: Daniela Steinberger
Nenad Blau
Dimitri Goriuonov
Juliane Bitsch
Michael Zuker
Sibylla Hummel
Ulrich Müller
Publication date: 01-09-2004
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 3/2004
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-004-0182-3

At a glance: The STEP trials

Springer Medicine

Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Abstract.

At a glance: The STEP trials

Springer Medicine

Abstract.

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