Abstract
Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical parkinsonism and 200 healthy control subjects for FMR1 premutation alleles. None of the subjects carried alleles within the premutation range. These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Alleles
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Brain / pathology
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Cerebellar Ataxia / epidemiology
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Cerebellar Ataxia / genetics
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Cerebellar Ataxia / pathology
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Cohort Studies
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Cost-Benefit Analysis
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DNA Mutational Analysis
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Essential Tremor / epidemiology
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Essential Tremor / genetics
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Essential Tremor / pathology
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Female
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Fragile X Mental Retardation Protein
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Fragile X Syndrome / epidemiology
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Fragile X Syndrome / genetics*
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Fragile X Syndrome / pathology
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Genetic Testing / economics
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Humans
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Movement Disorders / epidemiology
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Movement Disorders / genetics*
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Movement Disorders / pathology
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Multiple System Atrophy / epidemiology
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Multiple System Atrophy / genetics
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Multiple System Atrophy / pathology
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Nerve Tissue Proteins / genetics*
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Parkinson Disease / epidemiology
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Parkinson Disease / genetics
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Parkinson Disease / pathology
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RNA-Binding Proteins / genetics*
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Singapore / epidemiology
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Trinucleotide Repeats
Substances
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FMR1 protein, human
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Nerve Tissue Proteins
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RNA-Binding Proteins
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Fragile X Mental Retardation Protein