Abstract
Mutations in the Senataxin gene (SETX) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4). Here, the authors describe novel homozygous missense mutations in SETX, M274I, and R1294C, found in two siblings with ataxia, peripheral neuropathy, and increased serum alpha-fetoprotein level and three other siblings with heterozygous missense mutations who were neurologically asymptomatic. The results demonstrate that the double missense mutations are responsible for AOA2 but not for ALS4.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Action Potentials
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Age of Onset
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Aged
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Amyotrophic Lateral Sclerosis / pathology
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Apraxias / genetics
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Brain / pathology
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Cisterna Magna / pathology
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Consanguinity
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DNA Helicases
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DNA Mutational Analysis
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Evoked Potentials, Somatosensory
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Female
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Galvanic Skin Response
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Genes, Recessive
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Genotype
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Humans
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Japan
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Multifunctional Enzymes
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Muscle Weakness / genetics
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Muscular Atrophy / genetics
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Mutation, Missense*
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Phenotype
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Point Mutation*
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Protein Structure, Secondary
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RNA Helicases / chemistry
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RNA Helicases / genetics*
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Siblings
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Spinocerebellar Degenerations / blood
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Spinocerebellar Degenerations / genetics*
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Spinocerebellar Degenerations / pathology
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alpha-Fetoproteins / analysis*
Substances
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Multifunctional Enzymes
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alpha-Fetoproteins
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SETX protein, human
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DNA Helicases
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RNA Helicases