Abstract
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cerebellar Ataxia / genetics*
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Chromosome Mapping
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Chromosomes, Human, Pair 9
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DNA Helicases
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Fungal Proteins / genetics*
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Humans
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Multifunctional Enzymes
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Mutation
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Ocular Motility Disorders / genetics*
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RNA Helicases / genetics*
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Saccharomyces cerevisiae Proteins / genetics
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alpha-Fetoproteins / metabolism
Substances
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Fungal Proteins
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Multifunctional Enzymes
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Saccharomyces cerevisiae Proteins
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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