High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

J. Hagenah; R. Saunders-Pullman; K. Hedrich; K. Kabakci; K. Habermann; K. Wiegers; K. Mohrmann; T. Lohnau; D. Raymond; P. Vieregge; T. Nygaard; L. J. Ozelius; S. B. Bressman; C. Klein

doi:10.1212/01.WNL.0000152839.50258.A2

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

J. Hagenah, R. Saunders-Pullman, K. Hedrich, K. Kabakci, K. Habermann, K. Wiegers, K. Mohrmann, T. Lohnau, D. Raymond, P. Vieregge, T. Nygaard, L. J. Ozelius, S. B. Bressman, C. Klein^*

^*Corresponding author for this work

93 Citations (Scopus)

Abstract

Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87%. The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis.

Original language	English
Journal	Neurology
Volume	64
Issue number	5
Pages (from-to)	908-911
Number of pages	4
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.WNL.0000152839.50258.A2
Publication status	Published - 08.03.2005

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SDG 10 Reduced Inequalities

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Hagenah, J., Saunders-Pullman, R., Hedrich, K., Kabakci, K., Habermann, K., Wiegers, K., Mohrmann, K., Lohnau, T., Raymond, D., Vieregge, P., Nygaard, T., Ozelius, L. J., Bressman, S. B., & Klein, C. (2005). High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening. Neurology, 64(5), 908-911. https://doi.org/10.1212/01.WNL.0000152839.50258.A2

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abstract = "Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60\% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87\%. The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis.",

author = "J. Hagenah and R. Saunders-Pullman and K. Hedrich and K. Kabakci and K. Habermann and K. Wiegers and K. Mohrmann and T. Lohnau and D. Raymond and P. Vieregge and T. Nygaard and Ozelius, \{L. J.\} and Bressman, \{S. B.\} and C. Klein",

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Hagenah, J, Saunders-Pullman, R, Hedrich, K, Kabakci, K, Habermann, K, Wiegers, K, Mohrmann, K, Lohnau, T, Raymond, D, Vieregge, P, Nygaard, T, Ozelius, LJ, Bressman, SB & Klein, C 2005, 'High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening', Neurology, vol. 64, no. 5, pp. 908-911. https://doi.org/10.1212/01.WNL.0000152839.50258.A2

TY - JOUR

T1 - High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

AU - Hagenah, J.

AU - Saunders-Pullman, R.

AU - Hedrich, K.

AU - Kabakci, K.

AU - Habermann, K.

AU - Wiegers, K.

AU - Mohrmann, K.

AU - Lohnau, T.

AU - Raymond, D.

AU - Vieregge, P.

AU - Nygaard, T.

AU - Ozelius, L. J.

AU - Bressman, S. B.

AU - Klein, C.

PY - 2005/3/8

Y1 - 2005/3/8

N2 - Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87%. The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis.

AB - Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals with DRD for the different mutation types by conventional and quantitative PCR analyses and found mutations, including two large exon deletions, in 87%. The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis.

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SN - 0028-3878

VL - 64

SP - 908

EP - 911

JO - Neurology

JF - Neurology

IS - 5

ER -

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

Abstract

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