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

被引：37

作者：

Hirano, M

Tamaru, Y

Ito, H

Matsumoto, S

Imai, T

Ueno, S

机构：

[1] NARA MED UNIV,DEPT MED GENET,KASHIHARA,NARA 634,JAPAN

[2] OSAKA UNIV,SCH MED,DEPT NEUROL,KAMIYAMA,OSAKA,JAPAN

[3] KITANO HOSP & NEUROL CTR,DEPT NEUROL,KAMIYAMA,OSAKA,JAPAN

来源：

ANNALS OF NEUROLOGY | 1996年 / 40卷 / 05期

关键词：

D O I：

10.1002/ana.410400517

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/doparesponsive 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.

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页码：796 / 798

页数：3

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