Abstract
Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population. Here we report a strong association of two single nucleotide polymorphisms within or in close proximity to the TOR1A 3'UTR, with the lowest p value being 0.000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age Factors
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Austria
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Brain Chemistry / genetics*
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DNA Mutational Analysis
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Dystonic Disorders / genetics*
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Dystonic Disorders / metabolism
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Dystonic Disorders / physiopathology
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Female
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Gene Frequency
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Germany
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Haplotypes / genetics
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Humans
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Male
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Molecular Chaperones / genetics*
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Mutation / genetics
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Polymorphism, Single Nucleotide / genetics*
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Sex Factors
Substances
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Genetic Markers
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Molecular Chaperones
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TOR1A protein, human
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TOR1B protein, human