Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset

Annals of Neurology
M HiranoS Ueno

Abstract

We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription-polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.

References

May 15, 1995·Structure·H NarA Bacher

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Citations

Sep 24, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·Y Furukawa, S J Kish
Aug 2, 2003·Annals of Neurology·Masaya SegawaNobuyoshi Nishiyama
Oct 20, 1998·Annals of Neurology·O BandmannN W Wood
May 13, 1999·Molecular Neurobiology·T Nagatsu, H Ichinose
Aug 13, 2011·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·N TachiM Shinoda
Feb 8, 2000·Biological Chemistry·H IchinoseT Nagatsu
Apr 11, 2001·Movement Disorders : Official Journal of the Movement Disorder Society·J HoenickaJ García de Yébenes
Mar 25, 2008·Pediatric Neurology·Benjamin N R CheyetteGregory M Enns
May 29, 2000·Brain : a Journal of Neurology·J TassinA Brice
Aug 24, 1999·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·E D MarkovaI A Ivanova-Smolenskaya
Jun 4, 2019·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·A V MuranovaO N Voskresenskaya
Jul 20, 2006·The Biochemical Journal·Maya J PandyaGabriele Werner-Felmayer

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