Journal ArticleDOI
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
Hiroshi Ichinose,Tamae Ohye,Ei Ichi Takahashi,Ei Ichi Takahashi,Naohiko Seki,Tada aki Hori,Masaya Segawa,Yoshiko Nomura,Kotaro Endo,Hajime Tanaka,Shoji Tsuji,Keisuke Fujita,Toshiharu Nagatsu +12 more
TLDR
The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cycling enzyme gene is a causative gene for HPD/DRD.Abstract:
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzyme's activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.read more
Citations
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Role of the Basal Ganglia in the Control of Purposive Saccadic Eye Movements
TL;DR: The interaction between cortical and dopaminergic inputs to CD neurons may underlie the behavioral adaptation toward purposeful saccades, which reflects working memory, expectation, and attention.
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Parkinson's Disease: Genetics and Pathogenesis
TL;DR: This review synthesizes emerging lessons on PD pathogenesis from clinical, pathological, and genetic studies toward a unified concept of the disorder that may accelerate the design and testing of the next generation of PD therapies.
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GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence
Irmgard Tegeder,Michael Costigan,Robert S. Griffin,Andrea Abele,Inna Belfer,Helmut Schmidt,Corina Ehnert,Jemiel Nejim,Jemiel Nejim,Claudiu Marian,Joachim Scholz,Tianxia Wu,Andrew Allchorne,Luda Diatchenko,Alexander M. Binshtok,David Goldman,Jan Adolph,Swetha Sama,Steven J. Atlas,William A. Carlezon,Aram Parsegian,Jörn Lötsch,Roger B. Fillingim,William Maixner,Gerd Geisslinger,Mitchell B. Max,Clifford J. Woolf +26 more
TL;DR: It is reported that GTP cyclohydrolase (GCH1), the rate-limiting enzyme for tetrahydrobiopterin (BH4) synthesis, is a key modulator of peripheral neuropathic and inflammatory pain.
Journal ArticleDOI
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set–recoding and fuzzy inheritance
TL;DR: A novel set–recoding scheme is used to recode each person's genotype and ‘fuzzy inheritance’ to infer transmission probabilities and VITESSE enables fast and precise multipoint mappin of disease loci with highly polymorphic markers.
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Complexity of dopamine metabolism
TL;DR: This review highlights different aspects of dopamine metabolism in the context of PD and neurodegeneration by looking at DA biosynthesis, sequestration, degradation and oxidation chemistry at the metabolic level, as well as at the transcriptional, translational and posttranslational regulation of all enzymes involved.
References
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